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2014 | 1 |
2015 | 1 |
2024 | 0 |
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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.
J Med Genet. 2014.
PMID: 25342064
Free PMC article.
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK.
Tanaka AJ, et al.
Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.
Cold Spring Harb Mol Case Stud. 2015.
PMID: 27148565
Free PMC article.
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