1. Ataxia
  2. Homozygous splice mutation in CWF19L1

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome – Video

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Video Link: https://www.youtube.com/watch?v=Uut6rCeV0oU



Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome
Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. Our research may help with diagnosis, especially in Turkey, identify causes of...

By: Neurology Journal

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Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome - Video

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  1. Ataxia
  2. Homozygous splice mutation in CWF19L1