| Entry |
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|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
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|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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|---|
| Variation |
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|---|
| Network |
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|---|
| Disease |
| H02213 | Familial adult myoclonic epilepsy |
|
|---|
| Reference |
|
|---|
| Authors |
Chen W, Chen F, Shen Y, Yang Z, Qin J |
|---|
| Title |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy. |
|---|
| Journal |
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|---|
| LinkDB |
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