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10.1002/humu.22693 http://scihub22266oqcxt.onion/10.1002/humu.22693 C4295925!4295925!25205138     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2014 ; 35 (12): 1418-26 Nephropedia Template TP {{tp|p=25205138|t=2014. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies |pdf=|usr=}}{{25205138}} gab.com Text Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=25205138 #FOAvip A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic NEB variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in NEB in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in NEB. Furthermore, we have analyzed the NEB variants deposited in the Exome Variant Server (http://evs.gs.washington.edu/EVS/), identifying that pathogenic variants are a minor fraction of all coding variants (~7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype?phenotype correlations in NEB-associated disease. Twit Text FOAVip Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=25205138 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25205138 #FOAvip English Wikipedia <ref>{{Cite pmid|25205138}}</ref> Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies #MMPMID25205138 Lehtokari VL; Kiiski K; Sandaradura SA; Laporte J; Repo P; Frey JA; Donner K; Marttila M; Saunders C; Barth PG; den Dunnen JT; Beggs AH; Clarke NF; North KN; Laing NG; Romero NB; Winder TL; Pelin K; Wallgren-Pettersson C Hum Mutat 2014[Dec]; 35 (12): 1418-26 PMID25205138show ga A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic NEB variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in NEB in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in NEB. Furthermore, we have analyzed the NEB variants deposited in the Exome Variant Server (http://evs.gs.washington.edu/EVS/), identifying that pathogenic variants are a minor fraction of all coding variants (~7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype?phenotype correlations in NEB-associated disease. äMutation Update: The Spectra of Nebulin Variants and Associated Myopat(epmc).pdf DeepDyve Pubget Overpricing