Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.R348C
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H6PD

NM_004285.4:p.R348C

Associated Papers

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Akter H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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