Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.V618I
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AP4E1

NM_007347.5:p.V618I

Associated Papers

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM5_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

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

Raza MH et al.

American Journal of Human Genetics, 2015

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.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."