Publications:

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: ADAR: 1807A>G

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: ADAR: Thr603Ala

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 10

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The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation.

Mobile Dna

Herrmann, Alexandra A; Wittmann, Sabine S; Thomas, Dominique D; Shepard, Caitlin N CN; Kim, Baek B; Ferreirós, Nerea N; Gramberg, Thomas T

Publication Date: 2018

Variant appearance in text: ADAR: T603A

PubMed Link: 29610582

Variant Present in the following documents:

• Main text

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Phosphorylation of murine SAMHD1 regulates its antiretroviral activity.

Retrovirology

Wittmann, Sabine S; Behrendt, Rayk R; Eissmann, Kristin K; Volkmann, Bianca B; Thomas, Dominique D; Ebert, Thomas T; Cribier, Alexandra A; Benkirane, Monsef M; Hornung, Veit V; Bouzas, Nerea Ferreirós NF; Gramberg, Thomas T

Publication Date: 2015-12-15

Variant appearance in text: ADAR1: T603A

PubMed Link: 26667483

Variant Present in the following documents:

• Main text

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