Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.W97C
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MFSD8

NM_001371596.2:p.W97C

Associated Papers

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Griffith J et al.

Genes, 2022

36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CHP212

Annotating pathogenic non-coding variants in genic regions.

Gelfman S et al.

Nature Communications, 2017

Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report.

Ghiam S et al.

Case Reports in Ophthalmology, 0

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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."