Varaico: Literature-Extracted Genetic Variants

Gene:TMEM114
Variant:p.F106L
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TMEM114

NM_001146336.2:p.F106L

Associated Papers

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Jamieson RV et al.

Human Mutation, 2007

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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."