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| Autosomal recessive congenital ichthyosis v1.14 | ISCA-37417-Loss | Arina Puzriakova commented on Region: ISCA-37417-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive congenital ichthyosis v1.14 | ISCA-37417-Loss |
Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913. Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60. |
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| Autosomal recessive congenital ichthyosis v1.7 | ISCA-37417-Loss |
Louise Daugherty Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked; 308100 |
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