Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.F379S
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MFSD8

NM_001371596.2:p.F379S

Associated Papers

Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.

Huang L et al.

The European Journal of Neuroscience, 2021

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Geier EG et al.

Acta Neuropathologica, 2019

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E et al.

Clinical Genetics, 2018

30215852 (PubMed )
Supplement: CGE-94-569-s003.xlsx › VUS
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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."