Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.R135S
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RAB39B

NM_171998.4:p.R135S

Associated Papers

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

Yoon MK et al.

The British Journal of Ophthalmology, 2004

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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."