Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.K238fs
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STAR

NM_000349.3:p.K238fs

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

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

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Ishii T et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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."