KIF14错义变异通过影响正常基因剪接导致两种基因亚型。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-07 DOI:10.1002/pd.6744
Dorin Trigubov, Vered Ofen-Glassner, Bar Levy, Adi Mory, Igal Wolman, Yuval Yaron, Roee Birnbaum, Alina Kurolap
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A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing.
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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