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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN4A

Variant:p.L1433P

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SCN4A

NM_000334.4:p.L1433P

hg38:chr17:63941984 A>G

Associated Papers

Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.

Ji S et al.

The Journal of General Physiology, 1996

8833340 (PubMed )

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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."