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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCA2

Variant:p.H854N

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SMARCA2

NM_003070.5:p.H854N

hg38:chr9:2086862 C>A

Associated Papers

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt JK et al.

Nature Genetics, 2012

22366787 (PubMed )

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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."