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Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.Human Mutation|May 24, 2018
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidificationYohan Bignon, Alexi Alekov, Nadia Frachon, et al.Human Mutation|June 10, 2017
Semi-automated cancer genome analysis using high-performance computingGiuliano Crispatzu, Pranav Kulkarni, Mohammad R Toliat, et al.Human Mutation|May 11, 2017
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stabilitySapna Gupta, Liqun Wang, Warren D KrugerHuman Mutation|May 11, 2017
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactylyKaori Yamoto, Hirotomo Saitsu, Norio Nakagawa, et al.Human Mutation|May 13, 2017
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohortHao Wu, Dai-Zhan Zhou, Dorottya Berki, et al.Human Mutation|April 27, 2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypesChristopher M Grochowski, Shen Gu, Bo Yuan, et al.Human Mutation|April 23, 2002
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsMichael D Briggs, Kathryn L ChapmanHuman Mutation|April 23, 2002
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera, et al.Human Mutation|April 23, 2002
Sources of variability in genetic association studies: insights from the analysis of hepatic lipase (LIPC)Ralph V Shohet, Gloria L Vega, Thomas P Bersot, et al.Pageof 583