Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.G377R
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PNKP

NM_007254.4:p.G377R

Associated Papers

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Novis LE et al.

Parkinsonism & Related Disorders, 2024

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 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."