Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Y17*
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SRY

NM_003140.3:p.Y17*

Associated Papers

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Xia J et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Stoppa-Vaucher S et al.

Clinical Genetics, 2012

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli G et al.

European Journal of Human Genetics : Ejhg, 2007

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.

Jordan BK et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."