Publications:

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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Frontiers In Immunology

Batlle-Masó, Laura L; Garcia-Prat, Marina M; Parra-Martínez, Alba A; Franco-Jarava, Clara C; Aguiló-Cucurull, Aina A; Velasco, Pablo P; Antolín, María M; Rivière, Jacques G JG; Martín-Nalda, Andrea A; Soler-Palacín, Pere P; Martínez-Gallo, Mónica M; Colobran, Roger R

Publication Date: 2022

Variant appearance in text: 225: 815A>G

PubMed Link: 36466883

Variant Present in the following documents:

• Main text
• fimmu-13-1014984.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: 225: K272R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: 225: K272R

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: 225: K272R

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 815A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Selection of Plasmodium falciparum cytochrome B mutants by putative PfNDH2 inhibitors.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lane, Kristin D KD; Mu, Jianbing J; Lu, Jinghua J; Windle, Sean T ST; Liu, Anna A; Sun, Peter D PD; Wellems, Thomas E TE

Publication Date: 2018-06-12

Variant appearance in text: 225: K272R

PubMed Link: 29844160

Variant Present in the following documents:

• Main text

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: 225: 815A>G

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 815A>G

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Human Molecular Genetics

Ng, Calista K L CK; Shboul, Mohammad M; Taverniti, Valerio V; Bonnard, Carine C; Lee, Hane H; Eskin, Ascia A; Nelson, Stanley F SF; Al-Raqad, Mohammed M; Altawalbeh, Samah S; Séraphin, Bertrand B; Reversade, Bruno B

Publication Date: 2015-06-01

Variant appearance in text: 225: 815A>G

PubMed Link: 25712129

Variant Present in the following documents:

• supp_ddv067_ddv067supp_table_1.xls, sheet 1

View BVdb publication page

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PTEN regulation by Akt-EGR1-ARF-PTEN axis.

The Embo Journal

Yu, Jianxiu J; Zhang, Sharon S SS; Saito, Kan K; Williams, Scott S; Arimura, Yutaka Y; Ma, Yuliang Y; Ke, Yuehai Y; Baron, Veronique V; Mercola, Dan D; Feng, Gen-Sheng GS; Adamson, Eileen E; Mustelin, Tomas T

Publication Date: 2009-01-07

Variant appearance in text: EGR1: K272R

PubMed Link: 19057511

Variant Present in the following documents:

• Main text

View BVdb publication page

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