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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD8

Variant:p.L136delFs

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MFSD8

NM_001371596.2:p.L136delFs

hg38:chr4:127943781 AC>A

Associated Papers

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.

Ardehaie RM et al.

Clinical Genetics, 2025

39761966 (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."