Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q196*
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SURF1

NM_003172.4:p.Q196*

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

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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."