Mutational landscape of iridocorneal endothelial (ICE) syndrome. (IMAGE)
Caption
(A) Gene-based burden test of rare coding-altering mutations (max gnomAD AF ≤ 0.01). (B) Mutation burden analysis of rare pathogenic noncoding mutations (max gnomAD AF ≤ 0.001; predicted deleterious by all the 3 algorithms: GERP++, GWAVA, and CADD). (C) Gene RP1L1 was identified with a significantly coding-altering mutational burden. (D) Copy number variations identified throughout chromosomes in ICE patients. CS, Chandler syndrome; PIA, progressive iris atrophy; CR, Cogan-Reese syndrome.
Credit
Genes & Diseases
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