Publications:

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TGM1: 428G>A; Arg143His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs121918719

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: TGM1: R143H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TGM1: R143H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.

The Journal Of Investigative Dermatology

Aufenvenne, Karin K; Rice, Robert H RH; Hausser, Ingrid I; Oji, Vinzenz V; Hennies, Hans Christian HC; Rio, Marcela Del MD; Traupe, Heiko H; Larcher, Fernando F

Publication Date: 2012-07

Variant appearance in text: TGM1: 428G>A; Arg143His

PubMed Link: 22437313

Variant Present in the following documents:

• Main text
• nihms357395.pdf

View BVdb publication page

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Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Human Mutation

Herman, Matthew L ML; Farasat, Sharifeh S; Steinbach, Peter J PJ; Wei, Ming-Hui MH; Toure, Ousmane O; Fleckman, Philip P; Blake, Patrick P; Bale, Sherri J SJ; Toro, Jorge R JR

Publication Date: 2009-04

Variant appearance in text: TGM1: R143H

PubMed Link: 19241467

Variant Present in the following documents:

• Main text

View BVdb publication page

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