Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.R805W
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UNC45B

NM_173167.3:p.R805W

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.

Dafsari HS et al.

Acta Neuropathologica Communications, 2019

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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."