Varaico: Literature-Extracted Genetic Variants

Gene:ABCA2
Variant:p.R216H
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ABCA2

NM_001606.5:p.R216H

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3.

Li W et al.

Frontiers in Genetics, 2024

39286456 (PubMed )
Supplement: Table2.XLSX › Sheet2
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