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[Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutation that is likely to affect pre-RNA splicing and a paternally inherited allele in which the TYR gene is completely deleted, the first such allele described to date.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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