SPARQL | HTML Microdata document
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Statements
Subject Item _:vb50942256
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n6:ECO_0007645
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An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
obo:hasDbXref
url:https://ghr.nlm.nih.gov/condition/ocular-albinism
url:https://www.ncbi.nlm.nih.gov/pubmed/28356565
url:https://www.ncbi.nlm.nih.gov/pubmed/29531335
url:https://www.omim.org/entry/103470