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: 6787C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Genes

Simic, Dario D; Dummer, Reinhard R; Freiberger, Sandra N SN; Ramelyte, Egle E; Barysch, Marjam-Jeanette MJ

Publication Date: 2021-05-20

Variant appearance in text: NF1: 6787C>T; Gln2263*

PubMed Link: 34065301

Variant Present in the following documents:

• Main text
• genes-12-00781.pdf

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: NF1: 6787C>T; Q2263X

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page