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| Leukodystrophy v0.386 | Bryony Thompson Copied STR NOTCH2NLC_NIID_GGC from panel Leukodystrophy - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.386 | NOTCH2NLC_NIID_GGC |
Bryony Thompson STR: NOTCH2NLC_NIID_GGC was added STR: NOTCH2NLC_NIID_GGC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668 Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866 |
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