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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA4

Variant:p.Y270C

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SERPINA4

NM_006215.4:p.Y270C

hg38:chr14:94567129 A>G

Associated Papers

Mutational analysis of familial and sporadic hyperekplexia.

Shiang R et al.

Annals of Neurology, 1995

7611730 (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."