Clinical utility gene card: for pseudoxanthoma elasticum
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DOI: 10.1038/s41431-017-0090-2
Abstract: More than 300 distinct pathogenic variants have been reported in the ABCC6 gene [1]. Most of these variants are gathered in the public ABCC6 variants database (https://data bases.lovd.nl/shared/genes/ABCC6). These include missense, nonsense, frameshift, splice-site single-nucleotide… read more here.
Keywords: utility gene; card pseudoxanthoma; pathogenic variants; clinical utility ... See more keywords