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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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
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
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.
PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups
Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened
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A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.
PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups
A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1
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Has reproduction
Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.
PMID 36295018 · PMC9605557 · Life (Basel, Switzerland) · 2022 · 8 claims · 7 setups
Transposable elements make up nearly 45% of the human genome, vastly exceeding the ~1.5% that is protein-coding.