Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.E801K
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AP4E1

NM_007347.5:p.E801K

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG51

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).

Rehman AU et al.

Genes, 2022

36553564 (PubMed )
Supplement: genes-13-02299-s001.zip › genes-2028962-supplementary.pdf

Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter.

Chow HM et al.

Brain Communications, 2021

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

Raza MH et al.

American Journal of Human Genetics, 2015

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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."