Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.T240fs
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STAR

NM_000349.3:p.T240fs

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Rare forms of congenital adrenal hyperplasia.

Gurpinar Tosun B et al.

Clinical Endocrinology, 2024

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.

Albarel F et al.

Human Reproduction (oxford, England), 2016

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."