Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.P102fs
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KCNJ10

NM_002241.5:p.P102fs

Associated Papers

Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.

Yari A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_2

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations
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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."