Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.E248K
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RAF1

NM_002880.4:p.E248K

Associated Papers

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

Bertola DR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT et al.

Clinical Genetics, 2019

30859559 (PubMed )
Supplement: CGE-95-693-s001.pdf

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Umeki I et al.

Human Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."