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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCNN1A

Variant:p.Q499H

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SCNN1A

NM_001038.6:p.Q499H

hg38:chr12:6349164 C>G

Associated Papers

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.

Saffari F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024

38963175 (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."