Publications:

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: E689Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs1800309

PubMed Link: 30026549

Variant Present in the following documents:

• Main text

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1800309

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: rs1800309

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Using information interaction to discover epistatic effects in complex diseases.

Plos One

Anunciação, Orlando O; Vinga, Susana S; Oliveira, Arlindo L AL

Publication Date: 2013

Variant appearance in text: rs1800309

PubMed Link: 24194833

Variant Present in the following documents:

• Main text
• pone.0076300.pdf

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Exome-wide association study of replicable nonsynonymous variants conferring risk for alcohol dependence.

Journal Of Studies On Alcohol And Drugs

Zuo, Lingjun L; Saba, Laura L; Wang, Kesheng K; Zhang, Xiangyang X; Krystal, John H JH; Tabakoff, Boris B; Luo, Xingguang X

Publication Date: 2013-07

Variant appearance in text: rs1800309

PubMed Link: 23739027

Variant Present in the following documents:

• Main text

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