Varaico: Literature-Extracted Genetic Variants

Gene:MFSD6L
Variant:p.L539P
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MFSD6L

NM_152599.4:p.L539P

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Aldahmesh MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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