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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAPDH

Variant:p.M105L

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GAPDH

NM_002046.7:p.M105L

hg38:chr12:6536996 A>T

Associated Papers

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )

Supplement: KCHL_A_2349823_SM7931.docx

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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."