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| Ectodermal dysplasia v0.3 | KRT85 |
Ellen McDonagh gene: KRT85 was added gene: KRT85 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT85 were set to 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).; 16525032 (a homozygous variant identified in a large kindred of Pakistani origin) Phenotypes for gene: KRT85 were set to Ectodermal dysplasia, pure hair and nail type; Ectodermal dysplasia 4, hair/nail type, 602032 |
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