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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DOI: 10.1097/mcd.0000000000000452
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… read more here.
Keywords: analysis exome; sequencing data; data reveals; exome sequencing ... See more keywords