Varaico: Literature-Extracted Genetic Variants

Gene:CNTN5
Variant:p.S1079T
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CNTN5

NM_014361.4:p.S1079T

Associated Papers

Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population.

Hadi AF et al.

Neuropsychopharmacology Reports, 2025

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.

Koire A et al.

Plos One, 2017

28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."