Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.S31fs
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SRD5A2

NM_000348.4:p.S31fs

Associated Papers

Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS.

Arikan Y et al.

Scientific Reports, 2025

Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.

Mehta P et al.

Andrologia, 2021

Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Patil V et al.

Oncotarget, 2015

26496030 (PubMed )
Supplement: oncotarget-06-43452-s002.xlsx › Indels

Generation and sequencing of pulmonary carcinoid tumor cell lines.

Asiedu MK et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 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."