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| Eye Anterior Segment Abnormalities v1.19 | Sarah Milton Copied Region PITX2 upstream regulatory region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.19 | PITX2 upstream regulatory region |
Sarah Milton Region: PITX2 upstream regulatory region was added Region: PITX2 upstream regulatory region was added to Eye Anterior Segment Abnormalities. Sources: Literature SV/CNV tags were added to Region: PITX2 upstream regulatory region. Mode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756 Phenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187 |
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