Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops

Author:

Bhattacherjee Amrita,Ranganath PrajnyaORCID,Pasumarthi Divya,Dalal Ashwin B.

Funder

DST-SERB

Publisher

Elsevier BV

Subject

Genetics

Reference16 articles.

1. The Pfam protein families database;Bateman;Nucleic Acids Res.,2004

2. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome;Das Bhowmik;Gene,2015

3. Jain S, Drendel WB, Chen ZW, Mathews FS, Sly WS, Grubb JH. Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs. Nat. Struct. Mol. Biol. 1996; 3: 375–381.

4. Epidemiology of mucopolysaccharidoses;Khan;Mol. Genet. Metab.,2017

5. A general framework for estimating the relative pathogenicity of human genetic variants;Kircher;Nat. Genet.,2014

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