Publications:

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Hgg Advances

Zieger, Hanna K HK; Weinhold, Leonie L; Schmidt, Axel A; Holtgrewe, Manuel M; Juranek, Stefan A SA; Siewert, Anna A; Scheer, Annika B AB; Thieme, Frederic F; Mangold, Elisabeth E; Ishorst, Nina N; Brand, Fabian U FU; Welzenbach, Julia J; Beule, Dieter D; Paeschke, Katrin K; Krawitz, Peter M PM; Ludwig, Kerstin U KU

Publication Date: 2023-01-12

Variant appearance in text: NF1: P2717L

PubMed Link: 36589413

Variant Present in the following documents:

• mmc2.xlsx, sheet 5
• mmc2.xlsx, sheet 7

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KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: NF1: P2717L

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

View BVdb publication page

KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: NF1: P2717L

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.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: rs778799019

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

Molecular Cancer

Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J

Publication Date: 2018-08-08

Variant appearance in text: rs778799019

PubMed Link: 30089490

Variant Present in the following documents:

• Main text
• 12943_2018_Article_866.pdf

View BVdb publication page