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Year | Number of Results |
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PubMed for id: 482032
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A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Birth Defects Res. 2020 May 15;112(9):652-659. doi: 10.1002/bdr2.1676. Epub 2020 Apr 14.
Birth Defects Res. 2020.
PMID: 32286743
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
Whyte MP, Deepak Amalnath S, McAlister WH, Pedapati R, Muthupillai V, Duan S, Huskey M, Bijanki VN, Mumm S.
Whyte MP, et al.
Bone. 2018 Nov;116:321-332. doi: 10.1016/j.bone.2018.07.022. Epub 2018 Aug 2.
Bone. 2018.
PMID: 30077757
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LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K.
Ohkawara B, et al.
Hum Mol Genet. 2014 Apr 1;23(7):1856-68. doi: 10.1093/hmg/ddt578. Epub 2013 Nov 13.
Hum Mol Genet. 2014.
PMID: 24234652
Free PMC article.
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