Varaico: Literature-Extracted Genetic Variants

Gene:SF1
Variant:p.M1I
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SF1

NM_004630.4:p.M1I

Associated Papers

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.

Philibert P et al.

Reproductive Biology and Endocrinology : Rb&e, 2010

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D et al.

The New England Journal of Medicine, 2009

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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."