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
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS et al.
Genes, 2020
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.
Peng H et al.
Frontiers in Cell and Developmental Biology, 2020
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016
Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells.
Kajiya H et al.
Pflugers Archiv : European Journal of Physiology, 2009
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Campos-Xavier AB et al.
American Journal of Medical Genetics. Part A, 2005
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Waguespack SG et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
Genetic testing confirmed osteopetrosis with initial presentation of nystagmus.
Chiu KY et al.
Taiwan Journal of Ophthalmology, 0
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