Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
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Hum Genet. 2021 Aug;140(8):1143-1156. doi: 10.1007/s00439-021-02284-1. Epub 2021 May 11.
Hum Genet. 2021.
PMID: 33974130
Free PMC article.