Associated Papers
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D et al.
Brain Communications, 2021
34729478 (PubMed )
Supplement: fcab221_supplementary_data.zip › Supplementary_File_1.xlsx › Reported_AP-4_variants
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
Hirst J et al.
Traffic (copenhagen, Denmark), 2013
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
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