Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.R319K
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UVRAG

NM_003369.4:p.R319K

Associated Papers

[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].

Dai L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H et al.

American Journal of Human Genetics, 2001

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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."