Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.L1154del1
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SMARCA2

NM_003070.5:p.L1154del1

Associated Papers

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.

Simmers R et al.

Ophthalmic Genetics, 2022

35762114 (PubMed )
Supplement: supplement_1.pdf

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig NC et al.

Human Genetics, 2015

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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."