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| Ataxia and cerebellar anomalies - narrow panel v2.289 | ISCA-37404-Loss | Arina Puzriakova commented on Region: ISCA-37404-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.289 | ISCA-37404-Loss |
Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60. |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | ISCA-37404-Loss |
Ellen McDonagh Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105831; Angelman syndrome; Prader-Willi syndrome; Mental retardation |
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