A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

Research output: Contribution to journalResearch articleContributedpeer-review

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Original languageUndefined
JournalAmerican Journal of Medical Genetics, Part A
Publication statusPublished - 11 Dec 2019
Peer-reviewedYes

External IDs

Scopus 85076348306

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