PMC for ClinVar (Select 18391) - PMC

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Items: 4

Select item 56328181.

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, The Invitae Clinical Genomics Group, Scott Topper

Genet Med. 2017 Oct; 19(10): 1105–1117. Published online 2017 May 11. doi: 10.1038/gim.2017.37

Correction in:: Genet Med. 2020; 22(1): 240.

PMCID:: PMC5632818

Article PDF–595K

Select item 42223682.

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

William C. Wilson, Hue-Tran Hornig-Do, Francesco Bruni, Jeong Ho Chang, Alexis A. Jourdain, Jean-Claude Martinou, Maria Falkenberg, Henrik Spåhr, Nils-Göran Larsson, Richard J. Lewis, Lorraine Hewitt, Arnaud Baslé, Harold E. Cross, Liang Tong, Robert R. Lebel, Andrew H. Crosby, Zofia M. A. Chrzanowska-Lightowlers, Robert N. Lightowlers

Hum Mol Genet. 2014 Dec 1; 23(23): 6345–6355. Published online 2014 Jul 9. doi: 10.1093/hmg/ddu352

PMCID:: PMC4222368

Article PDF–693K

Select item 39732393.

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks

N T Martin, K Nakamura, U Paila, J Woo, C Brown, J A Wright, S N Teraoka, S Haghayegh, D McCurdy, M Schneider, H Hu, A R Quinlan, R A Gatti, P Concannon

Cell Death Dis. 2014 Mar; 5(3): e1130. Published online 2014 Mar 20. doi: 10.1038/cddis.2014.99

PMCID:: PMC3973239

Article PDF–1.0M

Select item 29789724.

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza, Christos Proukakis, Kay Gurtz, Michael A. Patton, Reza Sharifi, Gaurav Harlalka, Michael A. Simpson, Katherine Dick, Johanna A. Reed, Ali Al-Memar, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Robert N. Lightowlers

Am J Hum Genet. 2010 Nov 12; 87(5): 655–660. doi: 10.1016/j.ajhg.2010.09.013