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Fig. S5
In vivo assessment of missense polymorphisms reveals pathogenic effects. 17 polymorphisms were tested by in vivo mRNA rescue of MO injection. While several (n=7) rescued the morphant phenotype as efficiently as WT mRNA, suggestive of Benign variants (e.g. BBS12 R386Q and S616N in F), others produced pathogenic defects ranging from Hypomorphic (BBS2 I123V in C) to Null (BBS10 N544S in E) to dominant negative (BBS2 V122I in C).
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