Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.P130fs
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PURA

NM_005859.5:p.P130fs

Associated Papers

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Sabau IM et al.

International Journal of Molecular Sciences, 2025

40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
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