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Human Mutation|May 11, 2017
Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteomeKaavya A Mohanasundaram, Mani P Grover, Tamsyn M Crowley, et al.Human Mutation|May 16, 2017
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutationsYanmei Dou, Xiaoxu Yang, Ziyi Li, et al.Human Mutation|May 12, 2017
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathyAndreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, et al.Human Mutation|July 6, 2017
BOC is a modifier gene in holoprosencephalyMingi Hong, Kshitij Srivastava, Sungjin Kim, et al.Human Mutation|May 5, 2018
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonusJacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, et al.Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.Human Mutation|April 18, 2018
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicismStéphanie Tomé, Elodie Dandelot, Céline Dogan, et al.Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.Human Mutation|March 10, 2009
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methodsJanita Thusberg, Mauno VihinenPageof 583