Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.M2151I
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ABCA4

NM_000350.3:p.M2151I

Associated Papers

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants
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