Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.W104*
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SMARCE1

NM_003079.5:p.W104*

Associated Papers

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.

Yano S et al.

Clinical Genetics, 2018

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Smith MJ et al.

Nature Genetics, 2013

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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."