Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.G519E
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TENM4

NM_001098816.3:p.G519E

Associated Papers

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Harel T et al.

European Journal of Human Genetics : Ejhg, 2019

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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."