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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CANX

Variant:p.E2E

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CANX

NM_001746.4:p.E2E

hg38:chr5:179705687 A>G

Associated Papers

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Ramachandran N et al.

Acta Neuropathologica, 2013

23315026 (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."