Varaico: Literature-Extracted Genetic Variants

Gene:PTPRH
Variant:p.E200*
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PTPRH

NM_002842.5:p.E200*

Associated Papers

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks WJAJ et al.

Frontiers in Cell and Developmental Biology, 2022

36755664 (PubMed )
Supplement: Table1.XLSX › Suppl_Table_1

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Jansen IE et al.

Genome Biology, 2017

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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."