Associated Papers
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes.
Zhang Q et al.
Signal Transduction and Targeted Therapy, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Y et al.
Scientific Reports, 2022
35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Shining a light on CNTNAP2: complex functions to complex disorders.
Rodenas-Cuadrado P et al.
European Journal of Human Genetics : Ejhg, 2014
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.
Falivelli G et al.
Human Molecular Genetics, 2012
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Bakkaloglu B et al.
American Journal of Human Genetics, 2008
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