Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.Y52H
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AP4S1

NM_001128126.3:p.Y52H

Associated Papers

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
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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."