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).

• Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

  PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups

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  Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families

  genomic egyptian same peripheral multiplex clinical electromyography

• Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

  PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups

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  The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%

  peripheral reamplified patients dsdi founder-deletion-specific direct

• Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

  PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups

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  Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families

  genomic same pcr multiplex pcr snapshot

• Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

  PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups

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  In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.

  peripheral hprt-mutant pcr limiting cdna multiplex

• Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

  PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups

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  Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number

  genomic peripheral quantitative multiplex pcr-restriction

• Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

  PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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  The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

  genomic pcr long-distance pcr sanger