Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.Y92H
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GJA1

NM_000165.5:p.Y92H

Associated Papers

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Cassim A et al.

Orphanet Journal of Rare Diseases, 2022

Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing.

Ngoc NT et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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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."