Literature DB >> 32285596

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

Stefania Battistini1, Claudia Ricci1.   

Abstract

Entities:  

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

Year:  2020        PMID： 32285596     DOI： 10.1002/humu.24000

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  1 in total

1.  KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.

Authors:  Claudia Ricci; Alfonso Cerase; Giulia Riolo; Giuditta Manasse; Stefania Battistini
Journal:  J Mol Neurosci       Date:  2021-03-02       Impact factor: 3.444
  1 in total

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