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Critical consequences of finding three pathogenic mutations in an individual with recessive disease

Footnotes

  • Funding Wellcome Trust.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the Cambridge East Research Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Funding Wellcome Trust.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the Cambridge East Research Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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