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| COVID-19 research v1.116 | ISCA-37446-Loss | Eleanor Williams commented on Region: ISCA-37446-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.116 | ISCA-37446-Loss |
Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383. Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60. |
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| COVID-19 research v0.36 | ISCA-37446-Loss |
Ellen McDonagh Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Viral susceptibility. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37446-Loss were set to 188400; clefting; Velocardiofacial syndrome; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; cardiac malformations; Hearing deficits; DiGeorge syndrome; micrognathia |
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