Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
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DOI: 10.1136/jmedgenet-2022-108485
Abstract: Background Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in WRN. The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical WS. In the remaining… read more here.
Keywords: pathogenic variants; targeted long; read sequencing; werner syndrome ... See more keywords