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2019
Mark Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina ; Clemente, Paula ; Calvo-Garrido, Javier ; Wibom, Rolf ; Naess, Karin ; Barbaro, Michela ; Falk, Anna ^LU and Donnini, Claudia , et al. (2019) In Molecular Genetics & Genomic Medicine 7(6).
- Contribution to journal › Article
Mark Dissecting the Effects of Selection and Mutation on Genetic Diversity in Three Wood White (Leptidea) Butterfly Species
Talla, Venkat ; Soler, Lucile ; Kawakami, Takeshi ; Dincă, Vlad ; Vila, Roger ; Friberg, Magne ^LU ; Wiklund, Christer and Backström, Niclas (2019) In Genome Biology and Evolution 11(10). p.2875-2886
- Contribution to journal › Article
Mark Uncovering the Role of Key Active-Site Side Chains in Catalysis : An Extended Brønsted Relationship for Substrate Deprotonation Catalyzed by Wild-Type and Variants of Triosephosphate Isomerase
Kulkarni, Yashraj S ; Amyes, Tina L ; Richard, John P and Kamerlin, Shina C L ^LU (2019) In Journal of the American Chemical Society 141(40). p.16139-16150
- Contribution to journal › Article
Mark Structural consequence of the most frequently recurring cancer-associated substitution in DNA polymerase ε
Parkash, Vimal ; Kulkarni, Yashraj ; Ter Beek, Josy ; Shcherbakova, Polina V ; Kamerlin, Shina Caroline Lynn ^LU and Johansson, Erik (2019) In Nature Communications 10(1).
- Contribution to journal › Article
Mark Human Glycerol 3-Phosphate Dehydrogenase : X-ray Crystal Structures That Guide the Interpretation of Mutagenesis Studies
Mydy, Lisa S ; Cristobal, Judith R ; Katigbak, Roberto D ; Bauer, Paul ; Reyes, Archie C ; Kamerlin, Shina Caroline Lynn ^LU ; Richard, John P and Gulick, Andrew M (2019) In Biochemistry 58(8). p.1061-1073
- Contribution to journal › Article
2018
Mark Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers with Normal QTc Interval : The Value of Sex, T-Wave Morphology, and Mutation Type
Platonov, Pyotr G. ^LU ; McNitt, Scott ; Polonsky, Bronislava ; Rosero, Spencer Z. ; Kutyifa, Valentina ; Huang, Allison ; Moss, Arthur J. and Zareba, Wojciech (2018) In Circulation: Arrhythmia and Electrophysiology 11(7).
- Contribution to journal › Article
Mark Analysis of C3 gene variants in patients with idiopathic recurrent spontaneous pregnancy loss
Mohlin, Frida C. ^LU ; Gros, Piet ; Mercier, Eric ; Gris, Jean Christophe Raymond and Blom, Anna M. ^LU (2018) In Frontiers in Immunology 9(AUG).
- Contribution to journal › Article
Mark Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients
Lind-Halldén, Christina ; Manderstedt, Eric ^LU ; Carlberg, Daniel ; Lethagen, Stefan ^LU and Halldén, Christer ^LU (2018) In Thrombosis and Haemostasis 118(8). p.1382-1389
- Contribution to journal › Article
Mark Representativeness of variation benchmark datasets
Schaafsma, Gerard C P ^LU and Vihinen, Mauno ^LU (2018) In BMC Bioinformatics 19(1). p.461-461
- Contribution to journal › Article
Mark Systematics for types and effects of DNA variations
Vihinen, Mauno ^LU (2018) In BMC Genomics 19(1).
- Contribution to journal › Scientific review

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