Associated Papers
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.
Agianda HAP et al.
Annals of Clinical and Translational Neurology, 2026
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
Annals of Neurology, 2018
29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH et al.
American Journal of Human Genetics, 2015
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