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pro vyhledávání: '"Christelle Achkar"'
Autor:
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J. Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Lance H. Rodan, Mayher Patel, Lacey Smith, Sara Spencer, Christopher A. Walsh, Edward Yang, Christopher J. Yuskaitis, Timothy Yu, Annapurna Poduri, Christelle Achkar, James Barkovich, Jamel Chelly, Elizabeth Engle, William Hong, Hyunyong Koh, Rhonda Lassiter, Eric Marsh, Rebecca Pinsky, Catherine Shain, Bo Yuan, Christopher Yuskaitis
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families.The ClinG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbf172361e2b526e4e2fd2d07cb8f0b
https://pubmed.ncbi.nlm.nih.gov/35997716
https://pubmed.ncbi.nlm.nih.gov/35997716
