Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.F409L
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AP4M1

NM_004722.4:p.F409L

Associated Papers

A Novel AP4M1 Variant in an Iranian Child with Spastic Paraplegia 50: A Case Report and Molecular Docking Approach.

Esmaeil Lashgarian H et al.

Iranian Journal of Medical Sciences, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Nejabat M et al.

Frontiers in Pediatrics, 2021

Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.

Gadbery JE et al.

Protein Science : a Publication of the Protein Society, 2020

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."