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Human Mutation|September 9, 2020
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatmentRoxanne L Simmons, Haiyan Li, Baris Alten, et al.
Human Mutation|September 9, 2020
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontiaLiutao Zhang, Miao Yu, Sing-Wai Wong, et al.
Human Mutation|September 9, 2020
EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levelsAdam P Tobias, Edward S Tobias
Human Mutation|September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC geneFrancesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Human Mutation|July 2, 2021
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al.
Human Mutation|June 21, 2021
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screeningMeenal Gupta, Xiangfei Liu, Sharon N Teraoka, et al.
Human Mutation|June 24, 2021
Myopathy can be a key phenotype of membrin (GOSR2) deficiencyMads G Stemmerik, Josefine de S Borch, Morten Dunø, et al.
Human Mutation|June 3, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding dataHailee F Scelsi, Brett M Barlow, Emily G Saccuzzo, et al.
Human Mutation|December 14, 2020
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancerTeresa Sullivan, Eswary Thirthagiri, Chan-Eng Chong, et al.
Human Mutation|June 28, 2022
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson diseaseSantanu Das, Ameena Mohammed, Taniya Mandal, et al.
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