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Year | Number of Results |
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2007 | 1 |
2012 | 1 |
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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Hum Mutat. 2007 Sep;28(9):890-6. doi: 10.1002/humu.20532.
Hum Mutat. 2007.
PMID: 17465020
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y.
Valayannopoulos V, et al.
J Inherit Metab Dis. 2013 Jan;36(1):103-12. doi: 10.1007/s10545-012-9495-9. Epub 2012 May 30.
J Inherit Metab Dis. 2013.
PMID: 22644605
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Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S.
DesRoches CL, et al.
Gene. 2015 Jul 10;565(2):187-91. doi: 10.1016/j.gene.2015.04.011. Epub 2015 Apr 8.
Gene. 2015.
PMID: 25861866
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