De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01106-0.pdf
Reference21 articles.
1. Jentsch TJ, Pusch M. CLC chloride channels and transporters: structure, function, physiology, and disease. Physiol Rev. 2018;98:1493–590.
2. Poroca DR, Pelis RM, Chappe VM. ClC channels and transporters: structure, physiological functions, and implications in human chloride channelopathies. Front Pharm. 2017;8:151.
3. Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021;108:1450–65.
4. Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, et al. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. J Hum Genet. 2021;66:1193–7.
5. Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310–5.
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