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Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.
J Clin Lipidol. 2024 Oct 3:S1933-2874(24)00257-5. doi: 10.1016/j.jacl.2024.09.012. Online ahead of print.
J Clin Lipidol. 2024.
PMID: 39537505
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi TUK, Fatima A, Satti HS, Akram Z, Yousafzai IK, Naeem WB, Fatima N, Ali A, Iqbal Z, Khan A, Shahzad M, Liu C, Toft M, Zhang F, Tariq M, Davis EE, Khan TN.
Afridi TUK, et al. Among authors: naeem wb.
Mol Genet Genomics. 2024 May 21;299(1):55. doi: 10.1007/s00438-024-02149-y.
Mol Genet Genomics. 2024.
PMID: 38771357
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