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"A de novo silencer causes elimination of MITF-M expression and profound hear...
Background Genesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs)... -
Targeting functional fitness, hearing and health-related quality of life in o...
Background: Hearing loss (HL) is a disability associated with poorer health-related quality of life including an increased risk for loneliness, isolation,... -
Additional file 5: of Comprehensive genomic diagnosis of non-syndromic and sy...
Coverages and callabilities for every tier 1 and tier 2 gene on v3 samples. (XLSX 31 kb)