Varaico: Literature-Extracted Genetic Variants

Gene:KCNB2
Variant:p.E522K
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KCNB2

NM_004770.3:p.E522K

Associated Papers

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W et al.

Jbmr Plus, 2022

35991532 (PubMed )
Supplement: JBM4-6-e10659-s002.xlsx › Supl1.Dominant_model

Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.

Jambaljav B et al.

Diabetes Research and Clinical Practice, 2018

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ et al.

Frontiers in Genetics, 2018

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.

Juang JM et al.

Scientific Reports, 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."