Publications:

Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: N/A

PubMed Link: 33256598

Variant Present in the following documents:

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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: T18T

PubMed Link: 12142464

Variant Present in the following documents:

• Main text

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