Varaico: Literature-Extracted Genetic Variants

Gene:HOXA2
Variant:p.Q235*
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HOXA2

NM_006735.4:p.Q235*

Associated Papers

Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia.

Si N et al.

Gene, 2020

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

Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.

Li X et al.

Plos One, 2014

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.

Brown KK et al.

Human Mutation, 2013

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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."