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

Authors :
Carmela Fusco
Lucia Micale
Marco Castori
Source :
Human Mutation. 41:1072-1074
Publication Year :
2020
Publisher :
Hindawi Limited, 2020.

Subjects

Subjects :
Genetics
Hemangioma, Cavernous, Central Nervous System
Alternative splicing
Humans
Missense mutation
KRIT1 gene
Pathology, Molecular
Biology
KRIT1 Protein
Cerebral cavernous malformations
Genetics (clinical)
Workflow

Details

ISSN :
10981004 and 10597794
Volume :
41
Database :
OpenAIRE
Journal :
Human Mutation
Accession number :
edsair.doi.dedup.....7c99d7e71b6bd83d719aa3721c2d1fe2
Full Text :
https://doi.org/10.1002/humu.23999
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