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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD8

Variant:p.G147Splc

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MFSD8

NM_001371596.2:p.G147Splc

hg38:chr4:127943750 A>G

Associated Papers

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

38570878 (PubMed )

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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."