| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha [KO: K04739]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Variation |
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| Network |
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| Disease |
| H00260 | Pigmented micronodular adrenocortical disease |
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| Reference |
|
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| Authors |
Stratakis CA, Salpea P, Raygada M |
|---|
| Title |
Carney Complex |
|---|
| Journal |
GeneReviews (1993) |
|---|
| Reference |
|
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| Authors |
Bonnet-Serrano F, Bertherat J |
|---|
| Title |
Genetics of tumors of the adrenal cortex. |
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| Journal |
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| Reference |
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|---|
| Authors |
Greene EL, Horvath AD, Nesterova M, Giatzakis C, Bossis I, Stratakis CA |
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| Title |
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. |
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| Journal |
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| Reference |
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| Authors |
Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT |
|---|
| Title |
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. |
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| Journal |
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| LinkDB |
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