Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.Y132*
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DYM

NM_001353214.3:p.Y132*

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

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].

Rodríguez Rodríguez CM et al.

Neurologia (barcelona, Spain), 2007

Recent advances in Dyggve-Melchior-Clausen syndrome.

Paupe V et al.

Molecular Genetics and Metabolism, 0

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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."