Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform
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M. Van Heetvelde | M. Bauwens | B. Almoallem | Laila Jeddawi | A. Dueñas Rey | Q. Mahieu | E. De Baere | Marta Del Pozo-Valero