Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.Q343_L352delFs
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DYM

NM_001353214.3:p.Q343_L352delFs

Associated Papers

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Reyes-Silva C et al.

Genes, 2025

40428312 (PubMed )
Supplement: genes-16-00490-s001.zip › genes-3576202-supplementary.xlsx › Table_S2

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Bakar A et al.

Genes, 2023

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Obara K et al.

Molecular Syndromology, 2022

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

Seven M et al.

Clinical Dysmorphology, 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."