PMC Links for Gene (Select 174508) - PMC - NCBI

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Items: 3

Select item 59654031.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Iliana A. Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp

Hum Mol Genet. 2017 Jul 1; 26(13): 2541–2550. Published online 2017 Apr 25. doi: 10.1093/hmg/ddx152

PMCID:: PMC5965403

Abstract Article PDF–729K

Select item 31020772.

OrthoList: A Compendium of C. elegans Genes with Human Orthologs

Daniel D. Shaye, Iva Greenwald

PLoS One. 2011; 6(5): e20085. Published online 2011 May 25. doi: 10.1371/journal.pone.0020085

Correction in:: PLoS One. 2014; 9(1): 10.1371/annotation/f5ffb738-a176-4a43-b0e0-249cdea45fe0.

PMCID:: PMC3102077

Abstract Article PDF–530K

Select item 62165903.

OrthoList 2: A New Comparative Genomic Analysis of Human and Caenorhabditis elegans Genes

Woojin Kim, Ryan S. Underwood, Iva Greenwald, Daniel D. Shaye

Genetics. 2018 Oct; 210(2): 445–461. Published online 2018 Aug 17. doi: 10.1534/genetics.118.301307

PMCID:: PMC6216590

Abstract Article PDF–1.4M

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