Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.C218Y
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PDHA1

NM_000284.4:p.C218Y

Associated Papers

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Coste T et al.

Prenatal Diagnosis, 2025

39763161 (PubMed )
Supplement: supplement_1.docx

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
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