Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.S342Splc
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AP4M1

NM_004722.4:p.S342Splc

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG50

Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.

Francisco S et al.

Protein Science : a Publication of the Protein Society, 2025

39723768 (PubMed )
Supplement: PRO-34-e70006-s001.docx

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D et al.

Brain Communications, 2021

34729478 (PubMed )
Supplement: fcab221_supplementary_data.zip › Supplementary_File_1.xlsx › Reported_AP-4_variants

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M et al.

Journal of Human Genetics, 2019

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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."