A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
Author:
Funder
Université de Lyon
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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2. GRM7-related disorder: five additional patients from three independent families and review of the literature;European Journal of Medical Genetics;2024-02
3. Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1;The Cerebellum;2023-10-13
4. SCA44- and SCAR13-associatedGRM1mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms;2023-07-05
5. Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability;International Journal of Molecular Sciences;2023-01-12
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