Varaico: Literature-Extracted Genetic Variants

Gene:HOXA2
Variant:p.Q186K
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HOXA2

NM_006735.4:p.Q186K

Associated Papers

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Piceci F et al.

Clinical Genetics, 2017

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 2014

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.

Brown KK et al.

Human Mutation, 2013

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

Alasti F et al.

American Journal of Human Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."