Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.Q102_D103Splc
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STAR

NM_000349.3:p.Q102_D103Splc

Associated Papers

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Camats N et al.

Clinical Endocrinology, 2014

Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.

Lekarev O et al.

European Journal of Pediatrics, 2012

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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."