Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3A
Variant:p.R827H
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BLTP3A

NM_017754.4:p.R827H

Associated Papers

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Geoffron S et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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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."