Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.A351V
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NR5A1

NM_004959.5:p.A351V

Associated Papers

Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.

Gaikwad AS et al.

Ebiomedicine, 2025

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.

Cannarella R et al.

Life (basel, Switzerland), 2020

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.

Rocca MS et al.

Fertility and Sterility, 2018

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.

Herling CD et al.

Nature Communications, 2018

29463802 (PubMed )
Supplement: 41467_2018_3170_MOESM4_ESM.xlsx › Somatic_Mutations

Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.

Cannarella R et al.

Asian Journal of Andrology, 0

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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."