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Fig. 2 | BMC Ophthalmology

Fig. 2

From: Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Fig. 2

Direct sequencing analysis of the pathogenic variants in USH2A identified in this study. a Sequence shown the heterozygous nonsense variant c.4217C > A (p.Ser1406X) and the corresponding wild-type sequence. b Sequence shown the heterozygous missense variant c.8232G > C (p.Trp2744Cys) and the corresponding wild-type sequence. c Sequence shown the heterozygous one-base-substitution variant c.8559-2A > G and the corresponding wild-type sequence. d Sequence shown the heterozygous one-base-substitution variant c.11389 + 3A > T and the corresponding wild-type sequence. e Sequence shown the heterozygous missense variant c.11780A > G (p.Asp3927Gly) and the corresponding wild-type sequence. Arrows indicate the position of variants

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