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Novel FANCI mutations in Fanconi anemia with VACTERL association.
Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in...
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| Yayımlandı: | Am J Med Genet A |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7158112/ https://ncbi.nlm.nih.gov/pubmed/26590883 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37461 |
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