Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S878L
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ABCA4

NM_000350.3:p.S878L

Associated Papers

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Piotter E et al.

Frontiers in Genetics, 2021

35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
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