Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.N87_G88Splc
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CEP152

NM_001194998.2:p.N87_G88Splc

Associated Papers

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Farcy S et al.

Cells, 2023

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

Zhang L et al.

Frontiers in Genetics, 2022

Step to CEP152: uncovering a new mutation implicated in Seckel syndrome.

Ladha S

Clinical Genetics, 2011

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Kalay E et al.

Nature Genetics, 2011

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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."