Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.D1153_L1154del0
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SMARCA2

NM_003070.5:p.D1153_L1154del0

Associated Papers

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.

Simmers R et al.

Ophthalmic Genetics, 2022

35762114 (PubMed )
Supplement: supplement_1.pdf

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

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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