Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.R1402C
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PRPF8

NM_006445.4:p.R1402C

Associated Papers

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

O'Grady L et al.

American Journal of Medical Genetics. Part A, 2022

Somatic Mutations in Oncogenes Are in Chronic Myeloid Leukemia Acquired De Novo via Deregulated Base-Excision Repair and Alternative Non-Homologous End Joining.

Curik N et al.

Frontiers in Oncology, 2021

34616685 (PubMed )
Supplement: DataSheet_1.pdf
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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."