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PubMed (OMIM) for id: 64208
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A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.
Neuromuscul Disord. 2023 May;33(5):432-439. doi: 10.1016/j.nmd.2023.04.003. Epub 2023 Apr 7.
Neuromuscul Disord. 2023.
PMID: 37104941
A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26.
Zhang L, Li W, Weng Y, Lin K, Huang K, Ma S, Chu J, Yang Z, Zhang X, Sun H.
Zhang L, et al.
Clin Genet. 2022 Oct;102(4):345-349. doi: 10.1111/cge.14192. Epub 2022 Jul 26.
Clin Genet. 2022.
PMID: 35842834
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Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.
Ullah A, Lin Z, Younus M, Shafiq S, Khan S, Rasheed M, Mahmood A, Alqosaibi AI, Alshehri MA, Khan A, Umair M.
Ullah A, et al.
J Gene Med. 2022 Apr;24(4):e3412. doi: 10.1002/jgm.3412. Epub 2022 Feb 7.
J Gene Med. 2022.
PMID: 35075722
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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V.
Vissing J, et al.
Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.
Ann Neurol. 2019.
PMID: 31610034
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Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice.
Froese A, Breher SS, Waldeyer C, Schindler RF, Nikolaev VO, Rinné S, Wischmeyer E, Schlueter J, Becher J, Simrick S, Vauti F, Kuhtz J, Meister P, Kreissl S, Torlopp A, Liebig SK, Laakmann S, Müller TD, Neumann J, Stieber J, Ludwig A, Maier SK, Decher N, Arnold HH, Kirchhof P, Fabritz L, Brand T.
Froese A, et al.
J Clin Invest. 2012 Mar;122(3):1119-30. doi: 10.1172/JCI59410. Epub 2012 Feb 22.
J Clin Invest. 2012.
PMID: 22354168
Free PMC article.
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Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart.
Andrée B, Hillemann T, Kessler-Icekson G, Schmitt-John T, Jockusch H, Arnold HH, Brand T.
Andrée B, et al.
Dev Biol. 2000 Jul 15;223(2):371-82. doi: 10.1006/dbio.2000.9751.
Dev Biol. 2000.
PMID: 10882522
Free article.
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