 | | VARIANT: 8924v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| 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 |
| H00768 | Autosomal recessive intellectual developmental disorder |
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| Reference |
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| Authors |
Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH |
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| Title |
Mutation of HERC2 causes developmental delay with Angelman-like features. |
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| Journal |
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| Reference |
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| Authors |
Danielsen JR, Povlsen LK, Villumsen BH, Streicher W, Nilsson J, Wikstrom M, Bekker-Jensen S, Mailand N |
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| Title |
DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger. |
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| Journal |
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| Reference |
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| Authors |
Elpidorou M, Best S, Poulter JA, Hartill V, Hobson E, Sheridan E, Johnson CA |
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| Title |
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. |
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| Journal |
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| LinkDB |
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