| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy_CMT - isolated v1.71 | Sarah Milton Copied Region ISCA-37436-Gain from panel Common deletion and duplication syndromes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.71 | ISCA-37436-Gain |
Sarah Milton Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review Green,Expert list Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to PMID: 32648354 Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A, MIM#118220 |
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