A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

Brandon S Stone,Swetha Ramadesikan, Regan McGinley, Scott E Hickey, Leeran B Dublin-Ryan, Steven I Estes, Victoria A Elliott, Benjamin Karabasz,Jesse M Hunter,Bimal P Chaudhari,Richard K Wilson, Daniel C Koboldt

American journal of medical genetics Part A（2025）

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