Publications:

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: CILD7: L3715V

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: DNAH11: L3715V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bartoloni, Lucia L; Blouin, Jean-Louis JL; Pan, Yanzhen Y; Gehrig, Corinne C; Maiti, Amit K AK; Scamuffa, Nathalie N; Rossier, Colette C; Jorissen, Mark M; Armengot, Miguel M; Meeks, Maggie M; Mitchison, Hannah M HM; Chung, Eddie M K EM; Delozier-Blanchet, Celia D CD; Craigen, William J WJ; Antonarakis, Stylianos E SE

Publication Date: 2002-08-06

Variant appearance in text: DNAH11: L3715V

PubMed Link: 12142464

Variant Present in the following documents:

• Main text

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