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Year | Number of Results |
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2020 | 1 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
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Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
BMC Med Genomics. 2023 Mar 7;16(1):46. doi: 10.1186/s12920-023-01474-2.
BMC Med Genomics. 2023.
PMID: 36882827
Free PMC article.
West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.
He H, Cao X, Yin F, Wu T, Stauber T, Peng J.
He H, et al.
Mol Neurobiol. 2021 Jun;58(6):2990-2999. doi: 10.1007/s12035-021-02291-3. Epub 2021 Feb 16.
Mol Neurobiol. 2021.
PMID: 33590434
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First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
Zhang C, Deng X, Wen Y, He F, Yin F, Peng J.
Zhang C, et al.
BMC Med Genet. 2020 Nov 26;21(1):235. doi: 10.1186/s12881-020-01162-3.
BMC Med Genet. 2020.
PMID: 33243190
Free PMC article.
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