Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Has reproduction
The impact of haplotypes derived from Chinese pigs on genetic variation and economic traits in the Duroc breed.
PMID 41131451 · PMC12551222 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 8 setups
Significant genetic introgression from Chinese pigs into commercial European pig lines is confirmed using SNP chip and resequencing data.
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
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Report of the 9th HLPP Workshop October 2007, Seoul, Korea.
PMID 18683817 · PMC4601560 · Proteomics · 2008 · 8 claims · 8 setups
An integrated separating-identifying platform identified 6788 proteins (≥2 peptides, 95% confidence) in Chinese human liver samples, including 3721 new to liver and 977 hypothetical proteins
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The diploid genome sequence of an Asian individual.
PMID 18987735 · PMC2716080 · Nature · 2008 · 8 claims · 8 setups
First diploid genome sequence of an Asian (Han Chinese) individual generated using massively parallel Illumina sequencing
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Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.
PMID 16684361 · PMC1488846 · BMC genomics · 2006 · 8 claims · 5 setups
The coding region of MRP1 shows evidence of negative selection or recent population expansion based on nucleotide diversity statistics
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.
PMID 18439357 · PMC2600263 · Emerging infectious diseases · 2008 · 8 claims · 8 setups
71% (91/129) of Chinese cryptococcosis clinical isolates (1985-2006) came from patients with no apparent risk factor, versus only 8.5% from AIDS patients, contrasting sharply with other countries
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family
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An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.
PMID 18302794 · PMC2292209 · BMC genetics · 2008 · 7 claims · 5 setups
Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies
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Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups
Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups
Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip
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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups
A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.
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A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.
PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups
The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals
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A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups
A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.
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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups
A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family
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A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups
PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups
A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family