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Human Mutation|October 28, 2008
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applicationsSean V Tavtigian, Graham B Byrnes, David E Goldgar, et al.Human Mutation|September 8, 2007
Association of IL4R gene polymorphisms with asthma in Chinese populationsHaibing Zhang, Qu Zhang, Liming Wang, et al.Human Mutation|September 4, 2007
Characterization of the interactions of human ZIC3 mutants with GLI3Lirong Zhu, Guisheng Zhou, Suzanne Poole, et al.Human Mutation|November 25, 2016
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule SequencingSimon Ardui, Valerie Race, Alena Zablotskaya, et al.Human Mutation|July 29, 2020
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelinesSean V Tavtigian, Steven M Harrison, Kenneth M Boucher, et al.Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.Human Mutation|February 18, 2015
On human disease-causing amino acid variants: statistical study of sequence and structural patternsMarharyta Petukh, Tugba G Kucukkal, Emil AlexovHuman Mutation|March 31, 2015
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature AgingTero-Pekka Alastalo, Gun West, Song-Ping Li, et al.Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.Human Mutation|July 6, 2020
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuriaInsun Park, Helena Hůlková, Jakub Krijt, et al.Pageof 583