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2019 | 1 |
2020 | 1 |
2022 | 1 |
2024 | 0 |
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OMIM.org: leveraging knowledge across phenotype-gene relationships.
Nucleic Acids Res. 2019 Jan 8;47(D1):D1038-D1043. doi: 10.1093/nar/gky1151.
Nucleic Acids Res. 2019.
PMID: 30445645
Free PMC article.
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.
Thaxton C, Goldstein J, DiStefano M, Wallace K, Witmer PD, Haendel MA, Hamosh A, Rehm HL, Berg JS.
Thaxton C, et al.
Cell Genom. 2022 May 11;2(5):100131. doi: 10.1016/j.xgen.2022.100131.
Cell Genom. 2022.
PMID: 35754516
Free PMC article.
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What's in a name? Issues to consider when naming Mendelian disorders.
Rasmussen SA, Hamosh A; OMIM curators.
Rasmussen SA, et al.
Genet Med. 2020 Oct;22(10):1573-1575. doi: 10.1038/s41436-020-0851-0. Epub 2020 Jun 18.
Genet Med. 2020.
PMID: 32555417
Free PMC article.
No abstract available.
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