Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.K121R
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OTX2

NM_021728.4:p.K121R

Associated Papers

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

Lumaka A et al.

American Journal of Medical Genetics. Part A, 2012

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM et al.

Human Genetics, 2011

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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."