KEGG   VARIANT: 65057v1
Entry
65057v1                      Variant                               
Name
ACD mutation
Type
Loss of function
Gene
ACD  ACD shelterin complex subunit and telomerase recruitment factor [KO:K11114]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609377
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
Reference
PMID:25205116
  Authors
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM
  Title
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
  Journal
Blood 124:2767-74 (2014)
DOI:10.1182/blood-2014-08-596445
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