Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.R44Q
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SARDH

NM_001134707.2:p.R44Q

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

Redha N et al.

Journal of Central Nervous System Disease, 2024

38550250 (PubMed )
Supplement: sj-pdf-1-cns-10.1177_11795735241241423.pdf

Mitochondrial DNA abnormalities provide mechanistic insight and predict reactive oxygen species-stimulating drug efficacy.

Zaidieh T et al.

Bmc Cancer, 2021

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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."