Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.M295T
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NR5A1

NM_004959.5:p.M295T

Associated Papers

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng GY et al.

Journal of Endocrinological Investigation, 2023

Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.

Zhu H et al.

Orphanet Journal of Rare Diseases, 2021

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

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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."