See Table 1, column 1—‘Name of the disease’. Sequencing of both DNA strands. Disease-causing variants should be confirmed using genomic DNA from a new extraction. Causative variants found with ...
Microphthalmia is an eye abnormality that arises before birth and affects around one in 10,000 people. It causes one or both eyeballs to be abnormally small. They may be so tiny they appear to be ...
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