Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.P656L
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NPAP1

NM_018958.3:p.P656L

Associated Papers

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS5_SUPPL.xlsx › Foglio1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
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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."