Varaico: Literature-Extracted Genetic Variants

Gene:ECI1
Variant:p.R92C
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ECI1

NM_001919.4:p.R92C

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Association of protein function-altering variants with cardiometabolic traits: the strong heart study.

Shan Y et al.

Scientific Reports, 2022

35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3
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