Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R5
Variant:p.R441insFs
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PIK3R5

NM_001142633.3:p.R441insFs

Associated Papers

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Bras J et al.

American Journal of Human Genetics, 2015

25728773 (PubMed )
Supplement: mmc2.pdf
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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."