Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.T424_A428insFs
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PNKP

NM_007254.4:p.T424_A428insFs

Associated Papers

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Gatti M et al.

American Journal of Medical Genetics. Part A, 2019

[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing].

Rudenskaya GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 0

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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."