A novel nonsense variant in grm1 causes autosomal recessive spinocerebellar ataxia 13 in a consanguineous pakistani family

HIGHLIGHTS

• who: Hammad Yousaf and collaborators from the College, Institute of Engineering and Applied Sciences (PIEAS), Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi , have published the research: A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family, in the Journal: Genes 2022, 13, 1667. of /2022/
• what: The aim of this case report is to expand the clinical and molecular spectrum of Methods: The authors report novel homozygous nonsense variant in the gene in four patients presenting with clinical features that partially overlap with the . . .
  

   

  

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