Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V281L
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SCN5A

NM_000335.5:p.V281L

Associated Papers

Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities.

Pendina AA et al.

Frontiers in Genetics, 2019

Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.

Trakakis E et al.

Fertility and Sterility, 2011

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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."