Varaico: Literature-Extracted Genetic Variants

Gene:ORC1
Variant:p.R105W
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ORC1

NM_004153.4:p.R105W

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Parry DA et al.

Genes & Development, 2020

33060134 (PubMed )
Supplement: supp_gad.340190.120_Supplemental_Table_S3.xlsx › Table_S3
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