Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.V77E
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PURA

NM_005859.5:p.V77E

Associated Papers

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."