Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.K2172fs
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CPLANE1

NM_001384732.1:p.K2172fs

Associated Papers

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

Fang X et al.

Frontiers in Genetics, 2024

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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."