Undiagnosed disease program in South Africa: Results from first 100 exomes

Moosa, S; Coetzer, KC; Lee, E; Seo, GH

Moosa, S (通讯作者)，Stellenbosch Univ, Fac Med & Hlth Sci, Div Mol Biol & Human Genet, BMRI 1027,Francie Van Zijl Dr, ZA-7505 Cape Town, South Africa.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (9): 2684

Abstract

The Undiagnosed Disease Program in South Africa (UDP) sought to prospectively evaluate the clinical utility of exome sequencing (ES) in a phenotypical......

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