Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.S2232F
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CPLANE1

NM_001384732.1:p.S2232F

Associated Papers

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.

Liu W et al.

Frontiers in Genetics, 2022

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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."