Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Y47_S54del8
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NR5A1

NM_004959.5:p.Y47_S54del8

Associated Papers

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Robevska G et al.

Human Mutation, 2018

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2

Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.

Shi JW et al.

Asian Journal of Andrology, 0

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