PMC Links for Nucleotide (Select 294459970) - PMC

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Items: 5

Select item 64184431.

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

Stephanie L. Hines, John E. Richter, Jr, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal, Thomas R. Caulfield

Mol Genet Genomic Med. 2019 Mar; 7(3): e566. Published online 2019 Jan 28. doi: 10.1002/mgg3.566

PMCID:: PMC6418443

Abstract Article PDF–1.3M

Select item 63561772.

Recurrent activations of transient receptor potential vanilloid‐1 and vanilloid‐4 promote cellular proliferation and migration in esophageal squamous cell carcinoma cells

Rongqi Huang, Fei Wang, Yuchen Yang, Wenbo Ma, Zuoxian Lin, Na Cheng, Yan Long, Sihao Deng, Zhiyuan Li

FEBS Open Bio. 2019 Feb; 9(2): 206–225. Published online 2019 Jan 18. doi: 10.1002/2211-5463.12570

PMCID:: PMC6356177

Abstract Article PDF–2.9M

Select item 60812353.

Whole‐exome sequencing for variant discovery in blepharospasm

Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska‐Bar, Zbigniew K. Wszolek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux

Mol Genet Genomic Med. 2018 Jul; 6(4): 601–626. Published online 2018 May 16. doi: 10.1002/mgg3.411