Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NF1: E41V

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: NF1: 122A>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.

Biology

Dragoš, Vita Šetrajčič VŠ; Stegel, Vida V; Blatnik, Ana A; Klančar, Gašper G; Krajc, Mateja M; Novaković, Srdjan S

Publication Date: 2021-07-23

Variant appearance in text: NF1: 122A>T

PubMed Link: 34439939

Variant Present in the following documents:

• Main text
• biology-10-00706.pdf

View BVdb publication page

Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I.

Frontiers In Genetics

Setrajcic Dragos, Vita V; Blatnik, Ana A; Klancar, Gasper G; Stegel, Vida V; Krajc, Mateja M; Blatnik, Olga O; Novakovic, Srdjan S

Publication Date: 2019

Variant appearance in text: NF1: 122A>T; Glu41Val

PubMed Link: 31507634

Variant Present in the following documents:

• Main text
• fgene-10-00762.pdf

View BVdb publication page

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs786203038

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page