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Article

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.

Genetics and molecular research : GMR - 24 Jul 2014

Cai S P, Fan N, Chen J, Xia Z L, Wang Y, Zhou X M, Yin Y, Wen T L, Xia Q J, Liu X Y, Wang H Y

Abstract excerpt

This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the...

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PMID: 25078596
DOI: 10.4238/2014.July.24.19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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