Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.E1053*
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CEP135

NM_025009.5:p.E1053*

Associated Papers

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S et al.

Molecular Genetics & Genomic Medicine, 2020

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