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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37400-Loss | Arina Puzriakova commented on Region: ISCA-37400-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37400-Loss |
Arina Puzriakova GRCh38 position for ISCA-37400-Loss was changed from 29638675-30188534 to 29638676-30188531. Required Overlap Percentage for ISCA-37400-Loss was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37400-Loss |
Louise Daugherty Region: ISCA-37400-Loss was added Region: ISCA-37400-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37400-Loss were set to 21841781; 18184952; 20301775 Phenotypes for Region: ISCA-37400-Loss were set to seizures; intellectual disability; Chiari malformations; cerebellar ectopia; 611913; mental retardation; Macrocephaly; developmental delay; autism spectrum disorder (ASD); vertebral anomalies |
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