Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.K238delFs
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STAR

NM_000349.3:p.K238delFs

Associated Papers

Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.

Chan K et al.

Frontiers in Genetics, 2026

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

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Shiga N et al.

Human Genome Variation, 2022

36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2

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."