Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.Q200fs
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CHKB

NM_005198.5:p.Q200fs

Associated Papers

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC et al.

Npj Genomic Medicine, 2018

30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.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."