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Two novel variants and follow-up findings in four children with Bloom syndrome from two families
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Genetic screening and analysis of TUBB8 variants in females seeking ART
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An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
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Two novel variants and follow-up findings in four children with Bloom syndrome from two families
Genetic screening and analysis of TUBB8 variants in females seeking ART
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
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