A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. [electronic resource]

By: Contributor(s): Producer: 20201231Description: 103826 p. digitalISSN:
  • 1878-0849
Subject(s): Online resources: In: European journal of medical genetics vol. 63
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Publication Type: Case Reports; Journal Article

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