Heterozygous dhtkd1 variants in two european cohorts of amyotrophic lateral sclerosis patients

HIGHLIGHTS

• who: Alma Osmanovic and collaborators from the Department of Human Genetics, Hannover Medical School, Hannover, GermanyEssen Center for Rare Diseases (EZSE), University Hospital Essen, Essen, Germany have published the research: Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients, in the Journal: (JOURNAL) of 21/Oct/2021
• what: As two ALS patients carried rare DHTKD1 variants in the pilot study and the identified aberrations were loss-of-function and known pathogenic variants, the authors aimed to determine the frequency of rare DHTKD1 variants in all 225 patients of cohort 1. Since ALS . . .
  

   

  

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