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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBL1X

Variant:p.V529I

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TBL1X

NM_005647.4:p.V529I

hg38:chrX:9711756 G>A

Associated Papers

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

Bee L et al.

Embo Molecular Medicine, 2015

25872942 (PubMed )

Supplement: emmm0007-0918-sd2.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."