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

被引：1
|
作者：
Battistini, Stefania [1 ]
Ricci, Claudia [1 ]
机构：
[1] Univ Siena, Dept Med Surg & Neurol Sci, Viale Bracci 2, I-53100 Siena, Italy
来源：
HUMAN MUTATION | 2020年 / 41卷 / 05期
关键词：
cerebral cavernous malformations; functional studies; in silico analysis; KRIT1; gene; splicing variants; variant interpretation; MESSENGER-RNA; PREDICTION;
D O I：
10.1002/humu.24000
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1069 / 1071
页数：3
相关论文
共 32 条
  • [31] A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report
    Giusti, Francesca
    Marini, Francesca
    Al-alwani, Hatim
    Marasco, Elena
    Garagnani, Paolo
    Khan, Aliya A.
    Brandi, Maria Luisa
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (24)
  • [32] A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20years of BRCA1/2 research in the Baltic region: cohort study and literature review
    Loza, P.
    Irmejs, A.
    Daneberga, Z.
    Miklasevics, E.
    Berga-Svitina, E.
    Subatniece, S.
    Maksimenko, J.
    Trofimovics, G.
    Tauvena, E.
    Ukleikins, S.
    Gardovskis, J.
    HEREDITARY CANCER IN CLINICAL PRACTICE, 2021, 19 (01)
1234