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Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

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Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, DBT, Wellcome Trust India Alliance, Early Career Clinical and Public Health Research Fellowship, and Department of… Click to show full abstract

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, DBT, Wellcome Trust India Alliance, Early Career Clinical and Public Health Research Fellowship, and Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India Correspondence to Anju Shukla, MD, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India Tel: +91 82

Keywords: analysis exome; sequencing data; data reveals; exome sequencing; extended analysis; genetics

Journal Title: Clinical Dysmorphology
Year Published: 2023

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