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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRD5A2

Variant:p.I112N

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SRD5A2

NM_000348.4:p.I112N

hg38:chr2:31533713 A>T

Associated Papers

New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency.

Ferraz LF et al.

American Journal of Medical Genetics, 1999

10564874 (PubMed )

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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."