Varaico: Literature-Extracted Genetic Variants

Gene:AP3B2
Variant:p.P993fs
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AP3B2

NM_001278512.2:p.P993fs

Associated Papers

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Arterbery AS et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646824 (PubMed )
Supplement: media-2.xlsx › Table_S3

Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants.

Alizadeh P et al.

Practical Laboratory Medicine, 2025

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.

Dilber C et al.

Clinical Neurology and Neurosurgery, 2022

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