Varaico: Literature-Extracted Genetic Variants

Gene:RRN3
Variant:p.T444T
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RRN3

NM_018427.5:p.T444T

Associated Papers

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Houcinat N et al.

American Journal of Medical Genetics. Part A, 2015

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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."