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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP1G1

Variant:p.L657V

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AP1G1

NM_001128.6:p.L657V

hg38:chr16:71745174 G>C

Associated Papers

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

Gnazzo M et al.

Clinical Genetics, 2024

38665048 (PubMed )

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