Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E276K
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ACTG1

NM_001614.5:p.E276K

Associated Papers

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S et al.

Journal of Clinical Medicine, 2024

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R et al.

Genes, 2021

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

de Brouwer AP et al.

American Journal of Medical Genetics. Part A, 2005

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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."