RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

Abstract Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first human phenotype resulting from the germline loss‐of‐function of the...

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Hlavní autoři: Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
Médium: Článek
Jazyk:English
Vydáno: Springer Nature 2023-04-01
Edice:EMBO Molecular Medicine
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On-line přístup:https://doi.org/10.15252/emmm.202217078