Varaico: Literature-Extracted Genetic Variants

Gene:CSPP1
Variant:p.K20delFs
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CSPP1

NM_001382391.1:p.K20delFs

Associated Papers

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Racine C et al.

Journal of Medical Genetics, 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."