Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.F130delFs
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SLC25A4

NM_001151.4:p.F130delFs

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.

Goudenège D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."