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Links from Protein

Items: 3

1.
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi
Int J Mol Sci. 2019 Sep; 20(18): 4548. Published online 2019 Sep 13. doi: 10.3390/ijms20184548
PMCID:
PMC6770289
AbstractArticlePDF–2.6M
2.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
3.
AUTOSOMAL DOMINANT CALPAINOPATHY DUE TO HETEROZYGOUS CAPN3 C.643_663DEL21
JENNIFER M. MARTINEZ-THOMPSON, ZHIYV NIU, JENNIFER A. TRACY, STEVEN A. MOORE, ANDREA SWENSON, ERIC D. WIEBEN, MARGHERITA MILONE
Muscle Nerve. Author manuscript; available in PMC 2018 Apr 24.
Published in final edited form as: Muscle Nerve. 2018 Apr; 57(4): 679–683. Published online 2017 Sep 30. doi: 10.1002/mus.25970
PMCID:
PMC5915624
AbstractArticlePDF–341K

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