Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.R738H
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PNPT1

NM_033109.5:p.R738H

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Majethia P et al.

Clinical Genetics, 2024

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