Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
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Publisher
Archives of Endocrinology and Metabolism
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4. Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance;Hosoe;Diabetes,2017
5. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
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