Associated Papers
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
28838317 (PubMed )
Supplement: 12886_2017_549_MOESM3_ESM.pdf
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