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List of works by Bryn D Webb

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

scientific article published on 14 July 2016

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

scientific article published on 15 March 2019

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

scientific article

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