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Updated: Jul 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in

Vitaly V Kadyshev1, Ekaterina A Alekseeva1, Vladimir V Strelnikov1

  • 1Research Centre for Medical Genetics, 115522 Moscow, Russia.

International Journal of Molecular Sciences
|November 25, 2023
PubMed

Keywords:
ABCA4Stargardt diseaseage-related macular dystrophycomplex allelecone-rode dystrophygenotype–phenotype correlationretinitis pigmentosa

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