ABCA4 p.Trp2110*

ClinVar: c.6329G>A , p.Trp2110* ? , not provided

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[hide] Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Am J Hum Genet. 2000 Oct;67(4):960-6. Epub 2000 Aug 24., [PMID:10958761]

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