Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.P63L
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NSMF

NM_001130969.3:p.P63L

Associated Papers

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Wang T et al.

Heliyon, 2024

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Wang Y et al.

Frontiers in Endocrinology, 2022

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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."