Varaico: Literature-Extracted Genetic Variants

Gene:CCP110
Variant:p.R656Q
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CCP110

NM_001323572.2:p.R656Q

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

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Srivastava S et al.

Human Molecular Genetics, 2017

28973549 (PubMed )
Supplement: 1_supplementary_material_revised_final_nomarkings_ddx347.pdf
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