Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.Q217P
Back to variants list

HMX1

NM_018942.3:p.Q217P

Associated Papers

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.

Ansar M et al.

Ophthalmic Genetics, 2022

Polygenic Risk Score Improves Cataract Prediction in East Asian Population.

Hsu CC et al.

Biomedicines, 2022

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Gillespie RL et al.

Investigative Ophthalmology & Visual Science, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."