Varaico: Literature-Extracted Genetic Variants

Gene:CEP192
Variant:p.F2246S
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CEP192

NM_032142.4:p.F2246S

Associated Papers

Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

De Ita M et al.

Genes, 2022

36140829 (PubMed )
Supplement: genes-13-01662-s001.zip › genes-1887476-supplementary.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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