Springer Nature
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Additional file 1: of The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

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journal contribution
posted on 2016-09-14, 05:00 authored by Panagiotis Sergouniotis, Stephanie Barton, Sarah Waller, Rahat Perveen, Jamie Ellingford, Christopher Campbell, Georgina Hall, Rachel Gillespie, Sanjeev Bhaskar, Simon Ramsden, Graeme Black, Simon Lovell
Table S1. Genes and transcripts included in multigene panel tests for retinal dystrophy and childhood cataracts. Table S2. Clinical and in silico evaluation of small (≤21 nucleotides) in-frame insertions/deletions identified by panel-based genetic diagnostic testing in 486 probands with retinal dystrophy and 181 probands with childhood cataract. Table S3. Previously reported disease-associated small in-frame insertions/deletions in genes found to have clinically reported variants in the present study. (PDF 241 kb)


Biotechnology and Biological Sciences Research Council