Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.L1050P
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CEP152

NM_001194998.2:p.L1050P

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

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M et al.

Clinical Genetics, 2013

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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."