Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.L170P
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STAR

NM_000349.3:p.L170P

Associated Papers

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Phadte A et al.

Clinical Endocrinology, 2024

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

Huang Z et al.

Steroids, 2016

[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].

Qiu WJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

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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."