Publications:

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: PC: 338C>T; Ala113Val

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Association of mprF mutations with cross-resistance to daptomycin and vancomycin in methicillin-resistant Staphylococcus aureus (MRSA).

Scientific Reports

Thitiananpakorn, Kanate K; Aiba, Yoshifumi Y; Tan, Xin-Ee XE; Watanabe, Shinya S; Kiga, Kotaro K; Sato'o, Yusuke Y; Boonsiri, Tanit T; Li, Feng-Yu FY; Sasahara, Teppei T; Taki, Yusuke Y; Azam, Aa Haeruman AH; Zhang, Yuancheng Y; Cui, Longzhu L

Publication Date: 2020-09-30

Variant appearance in text: PC: A113V

PubMed Link: 32999359

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73108.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PC: 338C>T

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.

Scientific Reports

Wang, Xiaole X; He, Fang F; Yin, Fei F; Chen, Chao C; Wu, Liwen L; Yang, Lifen L; Peng, Jing J

Publication Date: 2016-10-25

Variant appearance in text: PC: 338C>T

PubMed Link: 27779215

Variant Present in the following documents:

• Main text

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The role of genetic polymorphisms in environmental health.

Environmental Health Perspectives

Kelada, Samir N SN; Eaton, David L DL; Wang, Sophia S SS; Rothman, Nathaniel R NR; Khoury, Muin J MJ

Publication Date: 2003-06

Variant appearance in text: PCB: Ala113Val

PubMed Link: 12826477

Variant Present in the following documents:

• ehp0111-001055.pdf

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