APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.
Journal Of Clinical Medicine
Hannah-Shmouni, Fady F; Trivellin, Giampaolo G; Beckers, Pablo P; Karaviti, Lefkothea P LP; Lodish, Maya M; Tatsi, Christina C; Adesina, Adekunle M AM; Adamidou, Fotini F; Mintziori, Gesthimani G; Josefson, Jami L JL; Quezado, Martha M; Stratakis, Constantine A CA
Publication Date: 2022-04-13
Variant appearance in text: NF1: 2339C>G; Thr780Arg; rs199474746