Varaico: Literature-Extracted Genetic Variants

Gene:CLEC16A
Variant:p.M1fs
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CLEC16A

NM_015226.3:p.M1fs

Associated Papers

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.

Smits DJ et al.

Human Genetics, 2023

36538041 (PubMed )
Supplement: 439_2022_2511_MOESM2_ESM.xlsx › Clinical_Table
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