Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.E251E
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MFSD8

NM_001371596.2:p.E251E

Associated Papers

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.

Monfrini E et al.

Neurology. Genetics, 2023

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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."