Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.P181P
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STAR

NM_000349.3:p.P181P

Associated Papers

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Kang E et al.

Molecular Medicine (cambridge, Mass.), 2017

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Thomas R et al.

Pediatric Nephrology (berlin, Germany), 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."