Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A50_H51insA
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MECP2

NM_004992.4:p.A50_H51insA

Associated Papers

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.

Khajuria R et al.

Brain & Development, 2012

Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.

Dasouki M et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Khajuria R et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.

Dasouki M et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Khajuria R et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Khajuria R et al.

Human Genetics, 2010

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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."