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Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)
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Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)
Hocking, L. J. et al. (2023) Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European Journal of Human Genetics, 31(2), pp. 231-238. (doi: 10.1038/s41431-022-01226-3) (PMID:36474026) (PMCID:PMC9905562)
Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)
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