Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.T451R
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CEP295

NM_033395.2:p.T451R

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Yang M et al.

Nature Communications, 2019

30944321 (PubMed )
Supplement: 41467_2019_9469_MOESM5_ESM.xlsx › ST2
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