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Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18
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- Article
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 597, doi. 10.1002/ajmg.a.36308
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- Article