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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
BMC Med Genet. 2019 Jun 13;20(1):106. doi: 10.1186/s12881-019-0842-7.
BMC Med Genet. 2019.
PMID: 31196117
Free PMC article.
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.
Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y.
Lu W, et al.
Mol Genet Genomic Med. 2020 May;8(5):e1212. doi: 10.1002/mgg3.1212. Epub 2020 Mar 11.
Mol Genet Genomic Med. 2020.
PMID: 32160656
Free PMC article.
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A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
Yang Q, Xu H, Luo J, Zhang Q, Xie B, Yi S, Rong X, Wang J, Qin Z, Jiang T, Lin L, Zuo Y, Fan X.
Yang Q, et al.
Mol Med Rep. 2018 Mar;17(3):4433-4439. doi: 10.3892/mmr.2018.8436. Epub 2018 Jan 16.
Mol Med Rep. 2018.
PMID: 29344653
Free PMC article.
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