Publications:

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports

Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2019-09

Variant appearance in text: HEXA: tRP420cYS

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

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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: HEXA: W420C

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HEXA: W420C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: HEXA: W420C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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