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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STK11

Variant:p.V4A

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STK11

NM_000455.5:p.V4A

hg38:chr19:1206924 T>C

Associated Papers

Disrupted minor intron splicing is prevalent in Mendelian disorders.

Olthof AM et al.

Molecular Genetics & Genomic Medicine, 2020

32573973 (PubMed )

Supplement: MGG3-8-e1374-s003.xlsx › Sheet1

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."