7q11.23 distal copy number variation (Homo sapiens)
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Description
Deletion or duplication of the region chr7:75,138,294-76,064,412, also known as 7q11.23 distal (OMIM # 613729), are rare genetic disorders and can cause different neurological and neuropsychiatric symptoms. Patients are often observed with epilepsy and neurodevelopmental delay.
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Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
(S)-malate | Oxaloacetate | mim-conversion | 21432 (Rhea) | |
MDH2 | mim-catalysis | 21432 (Rhea) | ||
NAD+ | NADH | mim-conversion | 21432 (Rhea) | |
POR | mim-catalysis | 24040 (Rhea) |