Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.R48H
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PARK7

NM_007262.5:p.R48H

Associated Papers

Mitochondrial and Nuclear DNA Variants in Amyotrophic Lateral Sclerosis: Enrichment in the Mitochondrial Control Region and Sirtuin Pathway Genes in Spinal Cord Tissue.

Cox SN et al.

Biomolecules, 2024

38672428 (PubMed )
Supplement: biomolecules-14-00411-s001.zip › biomolecules-2879041-supplementary.pdf

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
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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."