Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.M1V
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SCN5A

NM_000335.5:p.M1V

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Fei CF et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Wang JY et al.

Frontiers in Molecular Neuroscience, 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.

Ishikawa T et al.

Circulation. Arrhythmia and Electrophysiology, 2020

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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."