Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K et al.
Thescientificworldjournal, 2021
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
Jackson CC et al.
Journal of Clinical Immunology, 2016
Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
Roukens MG et al.
Circulation Research, 2015
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P et al.
Bmc Medical Genetics, 2015
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Alders M et al.
Molecular Syndromology, 2013
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M et al.
Nature Genetics, 2009
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