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18
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.pdf
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome
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6
report of a patient with a constitutional missense mutation in smarcb1, coffin-siris phenotype, and schwannomatosis.pdf
report of a patient with a constitutional missense mutation in smarcb1, coffin-siris phenotype, and schwannomatosis
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13
ap1s1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.[2020][hum genet].pdf
ap1s1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.[2020][hum genet]
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12
somatic and germline mosaicism for a r248c missense mutation in fgfr3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.pdf
AmericanJournal MedicalGenetics 120A:157–168 (2003)Somatic GermlineMosaicism R248CMissenseMutation F
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53
missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.[2017][hum mutat][10.1002humu.2.pdf
missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.[2017][hum mutat][10.1002humu.2
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51
molecular phenotype of slc4a11 missense mutants setting the stage for personalized medicine in corneal dystrophies.[2018][hum mutat][10.1002humu.23.pdf
articlehas been accepted undergonefull peer review beenthrough copyediting,typesetting, pagination p
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50
unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein crumbs.[2017][j cell sci][10.1242jcs.197178].pdf
unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein crumbs.[2017][j cell sci][10.1242jcs.197178]
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