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A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
https://www.ncbi.nlm.nih.gov/pubmed/11826028
United Kingdom
Italy
Taylor AMR
case
Brusco A
Last JI
2002
Saviozzi S
Saluto A
Trebini F
Paradiso MC
Grosso E
Funaro A
Ponzio G
Migone N
late onset variant
J Med Genet.
2002 Jan;39(1):57-61.
Saviozzi S
,
Saluto A
,
Taylor AM
,
Last JI
,
Trebini F
,
Paradiso MC
,
Grosso E
,
Funaro A
,
Ponzio G
,
Migone N
,
Brusco A
.
PMID:
11826028
PMCID:
PMC1734960
[Indexed for MEDLINE]
Free PMC Article
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