Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.Q128*
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MECP2

NM_004992.4:p.Q128*

Associated Papers

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Halbach N et al.

American Journal of Medical Genetics. Part A, 2016

Patients with Rett syndrome sustain low-energy fractures.

Roende G et al.

Pediatric Research, 2011

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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."