Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.H2108Y
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ARID1B

NM_001374828.1:p.H2108Y

Associated Papers

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

van der Sluijs PJ et al.

Genetics in Medicine Open, 2024

39669611 (PubMed )
Supplement: mmc1.pdf

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

van der Sluijs PJ et al.

Genes, 2021

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

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