ArticleCureus2020
Inherited Platelet Function Disorder From Novel Mutations in RAS Guanyl-Releasing Protein-2 Confirmed by Sanger Sequencing.
Article in Cureus, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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0 citing papers in PubMed, 1 citations in OpenAlex.
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1 author at 1 institution in 1 country.
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Abstract
Inherited platelet disorders (IPDs) are genetically heterogeneous rare disorders due to quantitative and/or qualitative abnormalities of the platelet. IPDs are often predisposed to significant medical complications. RAS guanyl-releasing protein-2 (RASGRP2) was recently identified as a gene affected in patients with platelet function defects and a bleeding complication. RASGRP2 codes for the protein CalDAG-GEFI RAS (guanyl-releasing protein-2), a guanine nucleotide exchange factor for small guanosine triphosphate(GTP)ase Rap1. We used Sanger sequencing to identify a novel function-disrupting homozygous mutation in RASGRP2 responsible for bleeding diathesis and platelet dysfunction in a patient.
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