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pro vyhledávání: '"Katja J. Pohl"'
Autor:
Carsten Dornblut, André Reis, Alexander Schulz, Johannes Schumacher, Amina Ismayel, Hasan Tawamie, Rami Abou Jamra, Lars Björn Riecken, Yan Cui, Heinrich Sticht, Katja J. Pohl, Rebecca Buchert, Helen Morrison
Publikováno v:
Human mutation. 36(2)
Gain-of-function alterations in several components and modulators of the Ras-MAPK pathway lead to dysregulation of the pathway and cause a broad spectrum of autosomal dominant developmental disorders, collectively known as RASopathies. These findings