Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.L1072delFs
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AP4E1

NM_007347.5:p.L1072delFs

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

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.

Manoochehri J et al.

Journal of Genetics, 2022

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

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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."