{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2188","gene_name":"collagen type XII alpha 1 chain","omim_gene":["120320"],"alias_name":["collagen type XII proteoglycan"],"gene_symbol":"COL12A1","hgnc_symbol":"COL12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:75794042-75915767","ensembl_id":"ENSG00000111799"}},"GRch38":{"90":{"location":"6:75084326-75206051","ensembl_id":"ENSG00000111799"}}},"hgnc_date_symbol_changed":"1992-03-24"},"entity_type":"gene","entity_name":"COL12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.","27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. 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