Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
Author:
Funder
Narodowe Centrum Nauki
Ministry of Health and Welfare
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02443-y.pdf
Reference34 articles.
1. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7(Unit7):20. https://doi.org/10.1002/0471142905.hg0720s76
2. Ahmadmehrabi S, Brant J, Epstein DJ, Ruckenstein MJ, Rader DJ (2021) Genetics of postlingual sensorineural hearing loss. Laryngoscope 131:401–409. https://doi.org/10.1002/lary.28646
3. Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV (2008) Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16:1240–1244. https://doi.org/10.1038/ejhg.2008.83
4. Chun S, Fay JC (2009) Identification of deleterious mutations within three human genomes. Genome Res 19:1553–1561. https://doi.org/10.1101/gr.092619.109
5. Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S (2010) Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 6:e1001025. https://doi.org/10.1371/journal.pcbi.1001025
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