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2017 | 2 |
2018 | 1 |
2024 | 0 |
PubMed for id: 1841222
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Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.
Eur J Paediatr Neurol. 2018.
PMID: 29122497
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.
Shukla A, et al.
J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.
J Hum Genet. 2017.
PMID: 28356563
Free PMC article.
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