Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1

被引：0

作者：

Lisha Yang

Jiewen Fu

Jingliang Cheng

Baixu Zhou

Xiaoyan Liu

Songyot Anuchapreeda

Junjiang Fu

机构：

[1] Southwest Medical University,Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine

[2] The Affiliated Hospital of Southwest Medical University,Department of Obstetrics

[3] Chiang Mai University,Department of Medical Technology, Faculty of Associated Medical Sciences

[4] Guangdong Women and Children Hospital,Department of Gynecology and Obstetrics

[5] Chiang Mai University,Center for Research and Development of Natural Products for Health

来源：

Molecular Biology Reports | 2023年 / 50卷

关键词：

Neurofibromatosis type 1 (NF1); Truncated protein; Whole exome-sequencing (WES); Novel variant;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：1117 / 1123

页数：6

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