Publications:

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: NF1: S1124N; rs374472758

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

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Genetic modification of primary human B cells to model high-grade lymphoma.

Nature Communications

Caeser, Rebecca R; Di Re, Miriam M; Krupka, Joanna A JA; Gao, Jie J; Lara-Chica, Maribel M; Dias, João M L JML; Cooke, Susanna L SL; Fenner, Rachel R; Usheva, Zelvera Z; Runge, Hendrik F P HFP; Beer, Philip A PA; Eldaly, Hesham H; Pak, Hyo-Kyung HK; Park, Chan-Sik CS; Vassiliou, George S GS; Huntly, Brian J P BJP; Mupo, Annalisa A; Bashford-Rogers, Rachael J M RJM; Hodson, Daniel J DJ

Publication Date: 2019-10-04

Variant appearance in text: NF1: 3371G>A; Ser1124Asn; rs374472758

PubMed Link: 31586074

Variant Present in the following documents:

• 41467_2019_12494_MOESM6_ESM.xlsx, sheet 1

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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: rs374472758

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans.

Plos One

Oh, Ensel E; Jeong, Hae Min HM; Kwon, Mi Jeong MJ; Ha, Sang Yun SY; Park, Hyung Kyu HK; Song, Ji-Young JY; Kim, Yu Jin YJ; Choi, Jong-Sun JS; Lee, Eun Hee EH; Lee, Jeeyun J; Choi, Yoon-La YL; Shin, Young Kee YK

Publication Date: 2017

Variant appearance in text: NF1: S1124N

PubMed Link: 28977029

Variant Present in the following documents:

• Main text
• pone.0185826.s003.xlsx, sheet 1
• pone.0185826.pdf

View BVdb publication page