De novo variants in SIAH1,...

Journal of Medical Genetics 2020 / 05

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Buratti, Julien, Ji, Lei, Keren, Boris, Lee, Youngha, Booke, Stephanie, Erdin, Serkan, Kim, Soo Yeon, Palculict, Timothy Blake, Meiner, Vardiella, Chae, Jong Hee, Woods, Christopher Geoffrey, Tam, All
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Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2019-106335
Date:
May, 2020
File:
PDF, 1.69 MB
2020
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