Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Antzeko izenburuak

• Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
  nork: Thomas, Anna C., et al.
  Argitaratua: (2014)
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• The use of whole-exome sequencing to disentangle complex phenotypes
  nork: Williams, Hywel J, et al.
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• An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
  nork: Le Quesne Stabej, Polona, et al.
  Argitaratua: (2017)
• SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  nork: Bryant, Dale, et al.
  Argitaratua: (2018)