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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRPPA

Variant:p.N342_V343Splc

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CRPPA

NM_001101426.4:p.N342_V343Splc

hg38:chr7:16258914 A>C

Associated Papers

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.

Sönmezler E et al.

Human Mutation, 2024

40225931 (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."