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| Syndromic Retinopathy v0.257 | PAK2 |
Elena Savva gene: PAK2 was added gene: PAK2 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK2 were set to PMID: 38894571 Phenotypes for gene: PAK2 were set to Knobloch syndrome 2 MIM#618458 Review for gene: PAK2 was set to GREEN Added comment: Additional patients in Schnur 2024 have retinal detachment/retinopathy, described in 4/4 probands with de novo missense, one of which had an additional inherited chromosomal abnormality. Sources: Literature |
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