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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF40A

Variant:p.G4D

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PRPF40A

NM_001365597.4:p.G4D

hg38:chr2:152717429 C>T

Associated Papers

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.

Morton DJ et al.

Plos Genetics, 2020

32645003 (PubMed )

Supplement: pgen.1008901.s012.docx

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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."