Publications:

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The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Genes & Diseases

Xu, Haoyue H; Liu, Hang H; Chen, Tao T; Song, Bo B; Zhu, Jin J; Liu, Xing X; Li, Ming M; Luo, Cong C

Publication Date: 2021-09

Variant appearance in text: 225: 502C>G

PubMed Link: 34291143

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: 225: 502C>G

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: 225: 502C>G

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

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: 502C>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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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: 225: 502C>G

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 502C>G

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Conserved, unstructured regions in Pseudomonas aeruginosa PilO are important for type IVa pilus function.

Scientific Reports

Leighton, T L TL; Mok, M C MC; Junop, M S MS; Howell, P L PL; Burrows, L L LL

Publication Date: 2018-02-08

Variant appearance in text: 225: P168A

PubMed Link: 29422606

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20925.pdf

View BVdb publication page

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Enzyme architecture: remarkably similar transition states for triosephosphate isomerase-catalyzed reactions of the whole substrate and the substrate in pieces.

Journal Of The American Chemical Society

Zhai, Xiang X; Amyes, Tina L TL; Richard, John P JP

Publication Date: 2014-03-19

Variant appearance in text: 225: P168A

PubMed Link: 24588650

Variant Present in the following documents:

• ja501103b_si_001.pdf

View BVdb publication page

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Mechanism for activation of triosephosphate isomerase by phosphite dianion: the role of a hydrophobic clamp.

Journal Of The American Chemical Society

Malabanan, M Merced MM; Koudelka, Astrid P AP; Amyes, Tina L TL; Richard, John P JP

Publication Date: 2012-06-20

Variant appearance in text: 225: P168A

PubMed Link: 22583393

Variant Present in the following documents:

• Main text

View BVdb publication page

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