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: 277T>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: NF1: C93R

PubMed Link: 35966080

Variant Present in the following documents:

• fendo-13-921645.pdf

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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Orphanet Journal Of Rare Diseases

Assunto, Antonia A; Ferrara, Ursula U; De Luca, Alessandro A; Pivonello, Claudia C; Lombardo, Lisa L; Piscitelli, Annapina A; Tortora, Cristina C; Pinna, Valentina V; Daniele, Paola P; Pivonello, Rosario R; Russo, Maria Giovanna MG; Limongelli, Giuseppe G; Colao, Annamaria A; Tartaglia, Marco M; Strisciuglio, Pietro P; Melis, Daniela D

Publication Date: 2019-11-15

Variant appearance in text: NF1: 277T>C; Cys93Arg

PubMed Link: 31730495

Variant Present in the following documents:

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: C93R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page