Publications:

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: BRAF: 1324G>A; G442S

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: BRAF: G442S

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.pdf

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: BRAF: G442S

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Mutational landscape reflects the biological continuum of plasma cell dyscrasias.

Blood Cancer Journal

Rossi, A A; Voigtlaender, M M; Janjetovic, S S; Thiele, B B; Alawi, M M; März, M M; Brandt, A A; Hansen, T T; Radloff, J J; Schön, G G; Hegenbart, U U; Schönland, S S; Langer, C C; Bokemeyer, C C; Binder, M M

Publication Date: 2017-02-24

Variant appearance in text: BRAF: G442S

PubMed Link: 28234344

Variant Present in the following documents:

• Main text
• bcj201719a.pdf

View BVdb publication page

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BRAF gene: From human cancers to developmental syndromes.

Saudi Journal Of Biological Sciences

Hussain, Muhammad Ramzan Manwar MR; Baig, Mukhtiar M; Mohamoud, Hussein Sheik Ali HS; Ulhaq, Zaheer Z; Hoessli, Daniel C DC; Khogeer, Ghaidaa Siraj GS; Al-Sayed, Ranem Radwan RR; Al-Aama, Jumana Yousuf JY

Publication Date: 2015-07

Variant appearance in text: BRAF: G442S

PubMed Link: 26150740

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: BRAF: G442S

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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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: BRAF: G442S

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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Molecular targets in melanoma: time for 'ethnic personalization'.

Expert Review Of Anticancer Therapy

Morita, Shane Y SY; Markovic, Svetomir N SN

Publication Date: 2012-05

Variant appearance in text: BRAF: G442S

PubMed Link: 22594895

Variant Present in the following documents:

• Main text

View BVdb publication page

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