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Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Stefania Battistini1, Claudia Ricci1

  • 1Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

Human Mutation
|April 15, 2020
PubMed
Abstract

No abstract available in PubMed .

Keywords:
KRIT1 genecerebral cavernous malformationsfunctional studiesin silico analysissplicing variantsvariant interpretation

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