Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00919-5.pdf
Reference50 articles.
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4. Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N, Gaff C, et al. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018;26:644–51.
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