Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R89delFs
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NR5A1

NM_004959.5:p.R89delFs

Associated Papers

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.

Wang H et al.

Human Genetics, 2018

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
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