Varaico: Literature-Extracted Genetic Variants

Gene:SF1
Variant:p.P390S
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SF1

NM_004630.4:p.P390S

Associated Papers

19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype.

Venegas-Vega C et al.

Molecular Cytogenetics, 2014

Isolated 'idiopathic' micropenis: hidden genetic defects?

Paris F et al.

International Journal of Andrology, 2011

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

Audi L et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."