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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3R1

Variant:p.Q572insFs

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PIK3R1

NM_181523.3:p.Q572insFs

hg38:chr5:68295292 C>CCA

Associated Papers

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.

Boycott KM et al.

American Journal of Medical Genetics. Part A, 2019

30724471 (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."