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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHCHD10

Variant:p.H63R

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CHCHD10

NM_213720.3:p.H63R

hg38:chr22:23767447 T>C

Associated Papers

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.

Shammas MK et al.

The Journal of Clinical Investigation, 2022

35700042 (PubMed )

Supplement: jci-132-157504-s084.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."