Varaico: Literature-Extracted Genetic Variants

Gene:CENPV
Variant:p.P24S
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CENPV

NM_181716.3:p.P24S

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

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Zahir FR et al.

Bmc Genomics, 2017

28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_42
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