Publications:

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: SERCA2: G23E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.

Translational Psychiatry

Mäki-Marttunen, Tuomo T; Lines, Glenn T GT; Edwards, Andrew G AG; Tveito, Aslak A; Dale, Anders M AM; Einevoll, Gaute T GT; Andreassen, Ole A OA

Publication Date: 2017-11-17

Variant appearance in text: ATP2A2: G23E

PubMed Link: 30446648

Variant Present in the following documents:

• 41398_2017_7_MOESM1_ESM.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: rs28929478

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: ATP2A2: G23E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes.

Journal Of Cell Science

Wang, Yin Y; Bruce, Allen T AT; Tu, Caixia C; Ma, Keli K; Zeng, Li L; Zheng, Pan P; Liu, Yang Y; Liu, Yan Y

Publication Date: 2011-11-01

Variant appearance in text: SERCA2: G23E

PubMed Link: 22045735

Variant Present in the following documents:

• Main text

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