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Diseases - (MeSH entry)
otorhinolaryngologic diseases (0) +
disorders of environmental origin (0) +
skin and connective tissue diseases (0) +
bacterial infections and mycoses (0) +
female urogenital diseases and pregnancy complications (0) +
respiratory tract diseases (0) +
nutritional and metabolic diseases (0) +
endocrine system diseases (0) +
congenital, hereditary, and neonatal diseases and abnormalities (0) +
pathological conditions, signs and symptoms (0) +
musculoskeletal diseases (0) +
hemic and lymphatic diseases (0) +
male urogenital diseases (0) +
Psychiatry and Psychology - (MeSH entry)
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| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P47870 | GBRB2_HUMAN | epileptic encephalopathy, infantile or early childhood, 2 | p.Met79Thr p.Tyr244His p.Leu277Ser p.Thr284Lys p.Thr287Pro p.Arg293Pro p.Lys303Arg p.Ala304Val p.Val316Ile |
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