Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Y436_Y438delFs
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NR5A1

NM_004959.5:p.Y436_Y438delFs

Associated Papers

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Pedace L et al.

American Journal of Medical Genetics. Part A, 2014

A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.

Sıklar Z et al.

Journal of Pediatric and Adolescent Gynecology, 2014

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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."