Varaico: Literature-Extracted Genetic Variants

Gene:PTPRK
Variant:p.R784H
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PTPRK

NM_002844.4:p.R784H

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

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

Histology-based molecular profiling improves mutation detection for advanced thyroid cancer.

Eszlinger M et al.

Genes, Chromosomes & Cancer, 2021

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ et al.

Nature, 2012

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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."