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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD8

Variant:p.E22*

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MFSD8

NM_001371596.2:p.E22*

hg38:chr4:127957591 C>A

Associated Papers

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.

Beckman M et al.

Ophthalmic Genetics, 2023

36861499 (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."