Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R2
Variant:p.R89C
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PIK3R2

NM_005027.4:p.R89C

Associated Papers

A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant.

Wang Y et al.

Frontiers in Genetics, 2021

Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma.

Koh J et al.

Cancers, 2020

32585984 (PubMed )
Supplement: cancers-12-01669-s001.zip › NMZL_Suppletab_Koh_et_al_Cancers_rev.xlsx › Table_S2

Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene.

Zhang B et al.

Stem Cell Research, 2020

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

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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."