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
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case Reports, 2024
38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP
Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity.
Frisk JH et al.
Acs Omega, 2021
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