Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP1
Variant:p.R47Q
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ENTREP1

NM_001347995.2:p.R47Q

Associated Papers

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )
Supplement: 10020_2025_1262_MOESM1_ESM.docx

Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis.

Abdullahi KM et al.

Genetic Testing and Molecular Biomarkers, 2024

39653367 (PubMed )
Supplement: sj-pdf-2-gtm-10.1089_gtmb.2024.0350.pdf
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