Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.C53fs
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AMPD2

NM_001368809.2:p.C53fs

Associated Papers

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Ben-Mahmoud A et al.

Frontiers in Molecular Neuroscience, 2022

36277487 (PubMed )
Supplement: Table_2.docx
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