KEGG   VARIANT: 118461v1
Entry
118461v1                      Variant                              
Name
CEFIP mutation
Type
Loss of function
Gene
C10orf71  chromosome 10 open reading frame 71 [KO:K28413]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 621202
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
Reference
PMID:38950288
  Authors
Li Y, Ma K, Dong Z, Gao S, Zhang J, Huang S, Yang J, Fang G, Li Y, Li X, Welch C, Griffin EL, Ramaswamy P, Valivullah Z, Liu X, Dong J, Wang DW, Du J, Chung WK, Li Y
  Title
Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.
  Journal
J Clin Invest 134:177172 (2024)
DOI:10.1172/JCI177172
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