Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD17
Variant:p.L519P
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ANKRD17

NM_032217.5:p.L519P

Associated Papers

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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