Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4
Variant:p.S1159L
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PLEKHG4

NM_001129729.3:p.S1159L

Associated Papers

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.

Kim M et al.

Parkinsonism & Related Disorders, 2020

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT179_Mutations

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs
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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."