Varaico: Literature-Extracted Genetic Variants

Gene:HMGB3
Variant:p.K161fs
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HMGB3

NM_005342.4:p.K161fs

Associated Papers

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

Zi F et al.

Bmc Medical Genomics, 2023

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Mensah MA et al.

Nature, 2023

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF et al.

Jama Ophthalmology, 2014

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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."