Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S271L
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GATA3

NM_001002295.2:p.S271L

Associated Papers

De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

Domínguez-Ruiz M et al.

International Journal of Molecular Sciences, 2025

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B et al.

Biomedicines, 2023

Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Wang P et al.

Signal Transduction and Targeted Therapy, 2021

34719670 (PubMed )
Supplement: 41392_2021_773_MOESM2_ESM.xlsx › NGS_report
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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."