Varaico: Literature-Extracted Genetic Variants

Gene:DPF2
Variant:p.G302Splc
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DPF2

NM_006268.5:p.G302Splc

Associated Papers

DPF2-related Coffin-Siris syndrome type 7 in two generations.

Kolokotronis K et al.

European Journal of Medical Genetics, 2024

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Vasileiou G et al.

American Journal of Human Genetics, 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."