Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.S85R
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CEP152

NM_001194998.2:p.S85R

Associated Papers

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Zhang L et al.

Frontiers in Genetics, 2022

36685824 (PubMed )
Supplement: DataSheet1.doc

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

D'Alessandro LC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."