Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.N187N
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SRY

NM_003140.3:p.N187N

Associated Papers

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

Hersmus R et al.

Bmc Medical Genetics, 2012

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY et al.

Hormone Research in Paediatrics, 2011

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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."