Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYH7: 4772T>C; Leu1591Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MYH7: 4772T>C; Leu1591Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Leu1591Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly.

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

Taylor, Keenan C KC; Buvoli, Massimo M; Korkmaz, Elif Nihal EN; Buvoli, Ada A; Zheng, Yuqing Y; Heinze, Nathan T NT; Cui, Qiang Q; Leinwand, Leslie A LA; Rayment, Ivan I

Publication Date: 2015-07-21

Variant appearance in text: MYH7: L1591P

PubMed Link: 26150528

Variant Present in the following documents:

• Main text

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: L1591P

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

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Myosinopathies: pathology and mechanisms.

Acta Neuropathologica

Tajsharghi, Homa H; Oldfors, Anders A

Publication Date: 2013-01

Variant appearance in text: MYH7: L1591P

PubMed Link: 22918376

Variant Present in the following documents:

• Main text
• 401_2012_Article_1024.pdf

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