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[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Peng Chunyan, Ma Shi, Tang Xianglan, Yang Jiyun

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for 11 sporadic patients with neurofibromatosis type 1. METHODS: Chip targeting capture and high-throughput sequencing were employed to detect potential mutations of NF1 and NF2 genes among the 11 patients. The data was filtered through multiple mutational databases and in-house whole exome sequence database. Sanger sequencing was used for analysis of family members of...

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PMID: 30098238
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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