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Title:	Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Source:	Nature Genetics [1061-4036] Thompson, Bryony yr:2013

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description	8.	Miller, C. "Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation." Annals of neurology 56.5 (2004): 734-738.
description	9.	Rasmussen, Lene J. "Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future." Human mutation 33.12 (2012): 1617-1625.
description	10.	Bannon, Sarah A. "Patient-reported disease knowledge and educational needs in Lynch syndrome: findings of an interactive multidisciplinary patient conference." Hereditary Cancer in Clinical Practice 12.1 (2014): 1-1.
description	11.	Schofield, L. "Population-based screening for Lynch syndrome in Western Australia." International journal of cancer 135.5 (2014): 1085-1091.
description	12.	Ristimäki, A. "BRAF mutation in sporadic colorectal cancer and Lynch syndrome." Virchows Archiv 463.5 (2013): 613-621.
description	13.	Sijmons, Rolf H. "Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians." Familial Cancer 12.2 (2013): 181-7.
description	14.	Mallilankaraman, K. "MICU1 Is an Essential Gatekeeper for MCU-Mediated Mitochondrial Ca.sup.2 Uptake that Regulates Cell Survival." Cell 151.3 (2012): 630-644.
description	15.	Lupo, G. "Mechanisms of ventral patterning in the vertebrate nervous system." Nature reviews. Neuroscience 7.2 (2006): 103-114.
description	16.	Vasen, H F A F. "Identification of HNPCC by molecular analysis of colorectal and endometrial tumors." Disease Markers 20.4-5 (2004): 207-13.
description	17.	Wilson, V. "Stem cells, signals and vertebrate body axis extension." Development 136.10 (2009): 1591-1604.
description	18.	Rizzuto, R. "MICU1 and MICU2 Finely Tune the Mitochondrial Ca(2+) Uniporter by Exerting Opposite Effects on MCU Activity." Molecular cell 53.5 (2014): 726-37.
description	19.	Steinke, V. "Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome." Deutsches Ärzteblatt international 110.3 (2013): 32-8.
description	20.	Capper, D. "BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer." International journal of cancer 133.7 (2013): 1624-30.