Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.D2178delFs
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ARID1A

NM_006015.6:p.D2178delFs

Associated Papers

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

Kosho T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

Creating a neural specific chromatin landscape by npBAF and nBAF complexes.

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW et al.

Human Mutation, 2013

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