Varaico: Literature-Extracted Genetic Variants

Gene:PTPN12
Variant:p.S684L
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PTPN12

NM_002835.4:p.S684L

Associated Papers

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Yu JW et al.

Jci Insight, 2025

39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.

Broderick P et al.

Gastroenterology, 2017

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

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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."