Publications:

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: IDUA: F602I

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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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: F602I

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: F602I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: F602I

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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