Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.R422*
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AP4M1

NM_004722.4:p.R422*

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

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Jiang T et al.

Frontiers in Molecular Neuroscience, 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."