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A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15.
Clin Genet. 2017.
PMID: 28542722
Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.
Hashmi JA, Safar RA, Afzal S, Albalawi AM, Abdu-Samad F, Iqbal Z, Basit S.
Hashmi JA, et al.
Mol Med Rep. 2018 Dec;18(6):5095-5100. doi: 10.3892/mmr.2018.9528. Epub 2018 Oct 2.
Mol Med Rep. 2018.
PMID: 30280192
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A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F.
Basit S, et al. Among authors: abdusamad f.
Ann Saudi Med. 2014 Sep-Oct;34(5):390-5. doi: 10.5144/0256-4947.2014.390.
Ann Saudi Med. 2014.
PMID: 25827695
Free PMC article.
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