Varaico: Literature-Extracted Genetic Variants

Gene:SLC33A1
Variant:p.L124F
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SLC33A1

NM_004733.4:p.L124F

Associated Papers

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33239752 (PubMed )
Supplement: 41436_2020_1027_MOESM1_ESM.pdf

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X et al.

Annals of Neurology, 2018

29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf
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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."