Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.N73fs
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AP4M1

NM_004722.4:p.N73fs

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
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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."