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Article

Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.

Journal of molecular neuroscience : MN - 1 Jun 2014

Balla Bernadett, Árvai Kristóf, Horváth Péter, Tobiás Bálint, Takács István, Nagy Zsolt, Dank Magdolna, Fekete György, Kósa János P, Lakatos Péter

Abstract excerpt

Neurofibromatosis type 1 (NF1) gene exhibits one of the highest spontaneous mutation rates in the human genome. Identification of the NF1 mutation is challenging because the NF1 gene is very large and complex, lacking mutational "hot spots." There is no clustering of mutations, there are several...

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Identifiers

PMID: 24676943
DOI: 10.1007/s12031-014-0286-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24676943-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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