Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.A358T
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AR

NM_000044.6:p.A358T

Associated Papers

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

Li MR et al.

Zhonghua Yi Xue Za Zhi, 2009

[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].

Li MR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao et al.

Journal of Child Neurology, 2008

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Li MR et al.

Journal of Human Genetics, 2007

[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].

Li MR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Bao XH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."