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Year | Number of Results |
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2020 | 2 |
2022 | 1 |
2025 | 0 |
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The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC Musculoskelet Disord. 2020 Apr 11;21(1):220. doi: 10.1186/s12891-020-03229-x.
BMC Musculoskelet Disord. 2020.
PMID: 32278351
Free PMC article.
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Wu N.
Shao J, et al.
BMC Med Genet. 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y.
BMC Med Genet. 2020.
PMID: 32460719
Free PMC article.
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Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y, Liu B, Shi J, Zhao S, Xu K, Sun L, Chen N, Tian W, Zhang J, Wu N.
Huang Y, et al.
J Pers Med. 2022 Sep 14;12(9):1503. doi: 10.3390/jpm12091503.
J Pers Med. 2022.
PMID: 36143288
Free PMC article.
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