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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHKB

Variant:p.Q198delFs

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CHKB

NM_005198.5:p.Q198delFs

hg38:chr22:50580648 CTG>C

Associated Papers

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

Pijuan J et al.

Frontiers in Neuroscience, 2022

35177962 (PubMed )

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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."