Varaico: Literature-Extracted Genetic Variants

Gene:STPG3
Variant:p.H358fs
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STPG3

NM_001256699.2:p.H358fs

Associated Papers

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

de Vries TI et al.

European Journal of Human Genetics : Ejhg, 2016

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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."