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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPFIA4

Variant:p.S888L

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PPFIA4

NM_001304331.2:p.S888L

hg38:chr1:203060296 C>T

Associated Papers

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Gagunashvili AN et al.

Human Genome Variation, 2019

31645973 (PubMed )

Supplement: 41439_2019_66_MOESM1_ESM.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."