The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Name: The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Author: Verbakel, Sanne K

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. — المؤلف: Verbakel, Sanne K — Molecular genetics & genomic medicine 20200623

المؤلف: Verbakel, Sanne K
النشر: Molecular genetics & genomic medicine 20200623
الوصف: e660 p.
الموضوعات: Adolescent؛ Child؛ Cone Dystrophy؛ Exome؛ Exons؛ Eye Proteins؛ Female؛ Frameshift Mutation