Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an es...

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Published in:Hum Mol Genet
Main Authors: Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383865/
https://ncbi.nlm.nih.gov/pubmed/25616960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv022
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