Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.H681Y
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CEP152

NM_001194998.2:p.H681Y

Associated Papers

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

Best S et al.

Journal of Medical Genetics, 2022

34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf
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