PMC Links for Protein (Select 5803106) - PMC

Select item 54798431.

Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains

Vid Puž, Miha Pavšič, Brigita Lenarčič, Kristina Djinović-Carugo

Sci Rep. 2017; 7: 3993. Published online 2017 Jun 21. doi: 10.1038/s41598-017-03323-6

PMCID:: PMC5479843

Select item 48821902.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 16832113.

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

M J Dixon, A P Read, D Donnai, A Colley, J Dixon, R Williamson

Am J Hum Genet. 1991 Jul; 49(1): 17–22.

PMCID:: PMC1683211

Summary Page Browse PDF–675K

Select item 16825584.

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q

Marcy C. Speer, Larry H. Yamaoka, James H. Gilchrist, C. P. Gaskell, Jeffrey M. Stajich, Jeffery M. Vance, Alexey Kazantsev, Anselmo A. Lastra, Carol S. Haynes, Jacques S. Beckmann, Daniel Cohen, James L. Weber, Allen D. Roses, Margaret A. Pericak-Vance

Am J Hum Genet. 1992 Jun; 50(6): 1211–1217.

PMCID:: PMC1682558

Summary Page Browse PDF–1.0M

Select item 66905835.

Whole genome sequencing and rare variant analysis in essential tremor families

Zagaa Odgerel, Shilpa Sonti, Nora Hernandez, Jemin Park, Ruth Ottman, Elan D. Louis, Lorraine N. Clark

PLoS One. 2019; 14(8): e0220512. Published online 2019 Aug 12. doi: 10.1371/journal.pone.0220512

PMCID:: PMC6690583

Abstract Article PDF–1.4M

Select item 52666446.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Hemakumar M. Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David M. Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang

J Hum Genet. Author manuscript; available in PMC 2017 Apr 6.

Published in final edited form as: J Hum Genet. 2017 Feb; 62(2): 243–252. Published online 2016 Oct 6. doi: 10.1038/jhg.2016.116

PMCID:: PMC5266644

Abstract Article PDF–600K

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