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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37439-Gain | Arina Puzriakova commented on Region: ISCA-37439-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37439-Gain |
Arina Puzriakova GRCh38 position for ISCA-37439-Gain was changed from 154336276-154660745 to 154396223-154555683. Required Overlap Percentage for ISCA-37439-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37439-Gain |
Louise Daugherty Region: ISCA-37439-Gain was added Region: ISCA-37439-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37439-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37439-Gain were set to 17546640; 20004760; 18047645 Phenotypes for Region: ISCA-37439-Gain were set to 28300815; Chromosome Xq duplication syndrome |
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