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Article

RNA processing and clinical variability in neurofibromatosis type I (NF1).

Human molecular genetics - 1 Jan 1997

Skuse G R, Cappione A J

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common genetic disorder which predisposes affected individuals to a variety of clinical features including tumors of the central and peripheral nervous systems. The product of the NF1 gene, neurofibromin, is a tumor suppressor which most likely acts through the interaction of its GTPase activating protein (GAP) related domain (GRD) with RAS to regulate cellular growth. Two...

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Identifiers

PMID: 9300663
DOI: 10.1093/hmg/6.10.1707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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