Associated Papers
Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger.
Wan Y et al.
Nature Communications, 2024
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Nakashima M et al.
Journal of Human Genetics, 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR et al.
American Journal of Human Genetics, 2021
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