Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.L428*
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MFSD8

NM_001371596.2:p.L428*

Associated Papers

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of 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."