Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V1706L
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ABCA4

NM_000350.3:p.V1706L

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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