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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 435, doi. 10.1002/ajmg.a.37422
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- Article
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127
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- Publication type:
- Article