Varaico: Literature-Extracted Genetic Variants

Gene:CEP120
Variant:p.T562fs
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CEP120

NM_001375405.1:p.T562fs

Associated Papers

[Clinical and genetic analyses of Joubert syndrome in children].

Zhang GY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Clinical and genetic characteristics of 36 children with Joubert syndrome.

Dong Y et al.

Frontiers in Pediatrics, 2023

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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."