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DNA replication and repair-deficiency disorder
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Metabolic disease
:
DNA replication
and
DNA repair-deficiency disorder
DNA replication
Separation/initiation:
RNASEH2A
Aicardi–Goutières syndrome 4
Termination/
telomerase
:
DKC1
Dyskeratosis congenita
DNA repair
Nucleotide excision repair
Cockayne syndrome
/
DeSanctis–Cacchione syndrome
Thymine dimer
Xeroderma pigmentosum
IBIDS syndrome
MSI
/
DNA mismatch repair
Hereditary nonpolyposis colorectal cancer
Muir–Torre syndrome
Mismatch repair cancer syndrome
MRN complex
Ataxia–telangiectasia
Nijmegen breakage syndrome
Other
RecQ helicase
Bloom syndrome
Werner syndrome
Rothmund–Thomson syndrome
/
RAPADILINO syndrome
Fanconi anemia
Li–Fraumeni syndrome
Severe combined immunodeficiency
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DNA replication and repair-deficiency disorders
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