PMC Links for Protein (Select 377823715) - PMC - NCBI

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Items: 4

Select item 62793601.

Splicing of an automodulatory domain in Ca_v1.4 Ca²⁺ channels confers distinct regulation by calmodulin

Brittany Williams, Françoise Haeseleer, Amy Lee

J Gen Physiol. 2018 Dec 3; 150(12): 1676–1687. doi: 10.1085/jgp.201812140

PMCID:: PMC6279360

Abstract Article PDF–2.6M

Select item 32569202.

Alternative Splicing at C Terminus of Ca_V1.4 Calcium Channel Modulates Calcium-dependent Inactivation, Activation Potential, and Current Density

Gregory Ming Yeong Tan, Dejie Yu, Juejin Wang, Tuck Wah Soong

J Biol Chem. 2012 Jan 6; 287(2): 832–847. Published online 2011 Nov 8. doi: 10.1074/jbc.M111.268722

PMCID:: PMC3256920

Abstract Article PDF–4.4M

Select item 10507693.

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

A A Bergen, J B ten Brink, F Riemslag, E J Schuurman, F Meire, N Tijmes, P T de Jong

J Med Genet. 1996 Oct; 33(10): 869–872. doi: 10.1136/jmg.33.10.869

PMCID:: PMC1050769

Summary Page Browse PDF–657K

Select item 56386884.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L. Motta, Renata T. Simões, Irma Lopez-Solache, Radwan Ajlan, David G. Birch, Peiquan Zhao, Fernanda B. Porto, Juliana Sallum, Robert K. Koenekoop, Ruifang Sui, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1521–1533. Published online 2017 Aug 18. doi: 10.1002/humu.23294

PMCID:: PMC5638688

Abstract Article PDF–640K

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