Publications:

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs750496798

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.

International Journal Of Molecular Sciences

Shukla, Praveen P; Dvorak, Christopher C CC; Long-Boyle, Janel J; Kharbanda, Sandhya S

Publication Date: 2020-08-06

Variant appearance in text: IDUA: 1087C>T

PubMed Link: 32781600

Variant Present in the following documents:

• Main text
• ijms-21-05634.pdf

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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: R363C; rs750496798

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IDUA: R363C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Nature Chemical Biology

Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN

Publication Date: 2013-11

Variant appearance in text: IDUA: Arg363Cys

PubMed Link: 24036510

Variant Present in the following documents:

• Main text
• nihms3970.pdf

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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Genetics And Molecular Biology

Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G

Publication Date: 2011-04

Variant appearance in text: IDUA: R363C

PubMed Link: 21734815

Variant Present in the following documents:

• Main text
• gmb-34-2-195.pdf

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