articleNature GeneticsMar 17, 2003GREEN OA

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

University of Sussex · Newcastle University · +1 more institution

PubMed
Indexed incrossrefpubmed

Abstract

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777
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15.46
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100%
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20
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Authors

5

Topics & keywords

Keywords
  • Microcephaly
  • Biology
  • Genetics
  • Ataxia-telangiectasia
  • Nijmegen breakage syndrome
  • Dwarfism
  • Mutation
  • DNA damage
UN Sustainable Development Goals
  • Good health and well-being
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