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Article

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.

Human molecular genetics - 15 Jan 2013

Cirstea Ion C, Gremer Lothar, Dvorsky Radovan, Zhang Si-Cai, Piekorz Roland P, Zenker Martin, Ahmadian Mohammad Reza

Abstract excerpt

Activating somatic and germline mutations of closely related RAS genes (H, K, N) have been found in various types of cancer and in patients with developmental disorders, respectively. The involvement of the RAS signalling pathways in developmental disorders has recently emerged as one of the most important drivers in RAS research. In the present study, we investigated the biochemical and cell biological...

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Source

Identifiers

PMID: 23059812
DOI: 10.1093/hmg/dds426

Genes

KRAS
RAF1

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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