Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

SGW Driver, MR Jackson, K Richter, P Tomlinson… – European Journal of Human …, (2019) Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype… consent. Sequence analysis. Exome libraries were constructed and sequenced by Otogenetics (Atlanta, USA) using a HiSeq2500 (Illumina), with prior enrichment using the SureSelect V5 + UTRs (Agilent) capture platform. Sequence …