Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.R331S
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CEP135

NM_025009.5:p.R331S

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Duerinckx S et al.

Human Mutation, 2020

31696992 (PubMed )
Supplement: HUMU-41-512-s001.pdf
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