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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
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- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10353-8
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- Article
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206
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- Publication type:
- Article