 | | VARIANT: 55388v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
MCM10 minichromosome maintenance 10 replication initiation factor [KO: K10736]
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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 |
| H02525 | Disorders of innate immunity |
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| Reference |
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| Authors |
Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK |
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| Title |
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. |
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| Journal |
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| Reference |
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| Authors |
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS |
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| Title |
Human NK cell deficiency as a result of biallelic mutations in MCM10. |
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| Journal |
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| LinkDB |
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