Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.L384delFs
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NR5A1

NM_004959.5:p.L384delFs

Associated Papers

Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.

Swartz JM et al.

Hormone Research in Paediatrics, 2017

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Woo KH et al.

Hormone Research in Paediatrics, 2015

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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."