Publications:

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

Publication Date: 2023-02-26

Variant appearance in text: NF1: 3655G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.

Cold Spring Harbor Perspectives In Medicine

Scheffzek, Klaus K; Shivalingaiah, Giridhar G

Publication Date: 2019-03-01

Variant appearance in text: NF1: G1219R

PubMed Link: 30104198

Variant Present in the following documents:

• Main text

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Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ

Publication Date: 2018-12

Variant appearance in text: NF1: G1219R

PubMed Link: 29973652

Variant Present in the following documents:

• Main text
• nihms972465.pdf

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