Varaico: Literature-Extracted Genetic Variants

Gene:DTYMK
Variant:p.D96_G107delFs
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DTYMK

NM_012145.4:p.D96_G107delFs

Associated Papers

Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.

Raúl HC et al.

American Journal of Medical Genetics. Part A, 2025

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