Publications:

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Helical ultrastructure of the metalloprotease meprin α in complex with a small molecule inhibitor.

Nature Communications

Bayly-Jones, Charles C; Lupton, Christopher J CJ; Fritz, Claudia C; Venugopal, Hariprasad H; Ramsbeck, Daniel D; Wermann, Michael M; Jäger, Christian C; de Marco, Alex A; Schilling, Stephan S; Schlenzig, Dagmar D; Whisstock, James C JC

Publication Date: 2022-10-19

Variant appearance in text: 225: 825G>A

PubMed Link: 36261433

Variant Present in the following documents:

• 41467_2022_33893_MOESM5_ESM.xlsx, sheet 3

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: Q275=

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics

Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H

Publication Date: 2022

Variant appearance in text: 225: 825G>A

PubMed Link: 35910219

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 7

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: Q275Q

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: Q275Q

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: 225: Gln275=

PubMed Link: 34172528

Variant Present in the following documents:

• Main text
• jmedgenet-2021-107886.pdf

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: 225: 825G>A

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: 225: 825G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 825G>A

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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A vaccine-based nanosystem for initiating innate immunity and improving tumor immunotherapy.

Nature Communications

Zheng, Di-Wei DW; Gao, Fan F; Cheng, Qian Q; Bao, Peng P; Dong, Xue X; Fan, Jin-Xuan JX; Song, Wen W; Zeng, Xuan X; Cheng, Si-Xue SX; Zhang, Xian-Zheng XZ

Publication Date: 2020-04-24

Variant appearance in text: 225: Q275Q

PubMed Link: 32332752

Variant Present in the following documents:

• 41467_2020_15927_MOESM3_ESM.xlsx, sheet 1

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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: 825G>A

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 11

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 825G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

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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: 825G>A

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

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Population genomics reveals that an anthropophilic population of Aedes aegypti mosquitoes in West Africa recently gave rise to American and Asian populations of this major disease vector.

Bmc Biology

Crawford, Jacob E JE; Alves, Joel M JM; Palmer, William J WJ; Day, Jonathan P JP; Sylla, Massamba M; Ramasamy, Ranjan R; Surendran, Sinnathamby N SN; Black, William C WC; Pain, Arnab A; Jiggins, Francis M FM

Publication Date: 2017-02-28

Variant appearance in text: 225: 825G>A

PubMed Link: 28241828

Variant Present in the following documents:

• 12915_2017_351_MOESM5_ESM.xlsx, sheet 2

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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: 825G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

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Carnitine transport and fatty acid oxidation.

Biochimica Et Biophysica Acta

Longo, Nicola N; Frigeni, Marta M; Pasquali, Marzia M

Publication Date: 2016-10

Variant appearance in text: 225: 825G>A

PubMed Link: 26828774

Variant Present in the following documents:

• Main text

View BVdb publication page

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