Varaico: Literature-Extracted Genetic Variants

Gene:CRPPA
Variant:p.N342_V343Splc
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CRPPA

NM_001101426.4:p.N342_V343Splc

Associated Papers

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

Sönmezler E et al.

Human Mutation, 2024

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
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