Varaico: Literature-Extracted Genetic Variants

Gene:PPIP5K2
Variant:p.R943*
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PPIP5K2

NM_001276277.3:p.R943*

Associated Papers

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Boonsawat P et al.

Npj Genomic Medicine, 2022

35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
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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."