Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.K96Splc
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RSPO1

NM_001242908.2:p.K96Splc

Associated Papers

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.

Tallapaka K et al.

American Journal of Medical Genetics. Part A, 2018

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L et al.

Endocrine Connections, 2014

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

Tomaselli S et al.

Human Mutation, 2008

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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."