Publications:

Combining lexical and context features for automatic ontology extension.

Journal Of Biomedical Semantics

Althubaiti, Sara S; Kafkas, Şenay Ş; Abdelhakim, Marwa M; Hoehndorf, Robert R

Publication Date: 2020-01-13

Variant appearance in text: HEXA: W474C

PubMed Link: 31931870

Variant Present in the following documents:

• 13326_2019_218_MOESM2_ESM.xls, sheet 1

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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: Trp474Cys

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

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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: W474C

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: W474C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.

Nucleic Acids Research

Fu, Yuan Y; Masuda, Akio A; Ito, Mikako M; Shinmi, Jun J; Ohno, Kinji K

Publication Date: 2011-05

Variant appearance in text: HEXA: W474C

PubMed Link: 21288883

Variant Present in the following documents:

• gkr026.pdf

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