Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3
Variant:p.F1173L
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CNTNAP3

NM_033655.5:p.F1173L

Associated Papers

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.

Hetzer B et al.

Blood Advances, 2022

35580337 (PubMed )
Supplement: advancesADV2021006347-suppl2.xlsx › Tabelle1

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Identification of HLA class I-restricted immunogenic neoantigens in triple negative breast cancer.

Aparicio B et al.

Frontiers in Immunology, 2022

36405725 (PubMed )
Supplement: Table_1.xlsx › P85

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Elias R et al.

Cell Reports, 2021

34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_

Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis.

Dal Molin M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

25623214 (PubMed )
Supplement: 10780432ccr142600-sup-138373_1_supp_2787887_ng4417.xlsx › Sheet1
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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."