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A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome

Malena Daich Varela1,2, Fabiana Louise Motta1,3, Andrew R Webster1,2

  • 1UCL Institute of Ophthalmology, London, UK.

Ophthalmic Genetics
|August 24, 2021
PubMed
Abstract

Keywords:
Cohen syndromeRetinal dystrophyVPS13Bhypomorphicin-frame deletion

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