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A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

Paper Details
Authors:
Alanna Strong
Soumya Rao
Sandra von Hardenberg
Dong Li
Liza L. Cox
Paul C. Lee
Li Q. Zhang
Waheed Awotoye
Tamir Diamond
Jessica I. Gold
Catherine Gooch
Lord J. J. Gowans
Hákon Hákonarson
Anne Hing
Kathleen M. Loomes
Nicole Martin
Thanuja Selvanayagam
Mary L. Marazita
Tarja Mononen
David A. Piccoli
Rolph Pfundt
Salmo Raskin
Stephen W. Scherer
Nara Sobriera
Courtney Vaccaro
Xiang Wang
Deborah Watson
Rosanna Weksberg
Elizabeth Bhoj
Jeffrey C. Murray
Andrew C. Lidral
Azeez Butali
Michael F. Buckley
Tony Roscioli
David A. Koolen
Laurie H. Seaver
Cynthia A. Prows
Rolf W. Stottmann
Timothy C. Cox
Publication Date: 2023-02-07
RNA modifications and cancerBiochemistry, Genetics and Molecular BiologyMolecular BiologyLife Sciences
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