Bryn Webb
0000-0001-6174-4677
4 papers found
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Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants
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