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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSPP1

Variant:p.E775_Q776delFs

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CSPP1

NM_001382391.1:p.E775_Q776delFs

hg38:chr8:67158529 AAC>A

Associated Papers

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene's pathogenic mechanism.

Wei C et al.

Frontiers in Pediatrics, 2024

38586154 (PubMed )

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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."