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

HUMAN MUTATION (2020)

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Journal

HUMAN MUTATION
Volume 41, Issue 5, Pages 1069-1071

Publisher

WILEY
DOI: 10.1002/humu.24000

Keywords

cerebral cavernous malformations; functional studies; in silico analysis; KRIT1 gene; splicing variants; variant interpretation

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Genetics & Heredity

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