Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.R25W
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CRYBA4

NM_001886.3:p.R25W

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study.

Adhikari S et al.

Bmc Medical Genetics, 2020

In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.

Wang Z et al.

Plos One, 2020

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B et al.

Clinical Genetics, 2014

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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."