Varaico: Literature-Extracted Genetic Variants

Gene:PEAR1
Variant:p.N848K
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PEAR1

NM_001080471.3:p.N848K

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation.

Kim Y et al.

Plos One, 2013

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

Jones CI et al.

Blood, 2009

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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."