Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.K79_V80Splc
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SMARCE1

NM_003079.5:p.K79_V80Splc

Associated Papers

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Aguilera C et al.

Plos One, 2021

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Aguilera C et al.

Molecular Genetics & Genomic Medicine, 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."