Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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DOI: 10.1038/s41436-020-0787-4
Abstract: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands.… read more here.
Keywords: resolving dark; dark matter; disease; matter abca4 ... See more keywords