Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S2002Splc
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ABCA4

NM_000350.3:p.S2002Splc

Associated Papers

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

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Battu R et al.

Biomed Research International, 2015

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2009

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

Aguirre-Lamban J et al.

The British Journal of Ophthalmology, 2009

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lambán J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lambán J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Maia-Lopes S et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Maia-Lopes S et al.

Human Genetics, 2008

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Stenirri S et al.

Clinical Chemistry, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."