Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.Q95_N96insT
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DYM

NM_001353214.3:p.Q95_N96insT

Associated Papers

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 Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Gaboon NEA et al.

Frontiers in Pediatrics, 2020

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