Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.L2112F
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ARID1A

NM_006015.6:p.L2112F

Associated Papers

Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.

Liu M et al.

Genes & Genomics, 2022

Genetic and Clinical Characteristics of ARID1A Mutated Melanoma Reveal High Tumor Mutational Load without Implications on Patient Survival.

Thielmann CM et al.

Cancers, 2022

35565222 (PubMed )
Supplement: cancers-14-02090-s001.zip › cancers-1666969_Supplementary_material.pdf

A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.

Lee CG et al.

Annals of Laboratory Medicine, 2021

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