Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K et al.
Thescientificworldjournal, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
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 in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M et al.
Nature Genetics, 2009
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