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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCNN1A

Variant:p.G598_G599insG

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SCNN1A

NM_001038.6:p.G598_G599insG

hg38:chr12:6348091 C>CNNN

Associated Papers

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.

Cayir A et al.

Hormone Research in Paediatrics, 2019

31018202 (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."