Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A290S
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MECP2

NM_001110792.2:p.A290S

Associated Papers

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Sheth F et al.

Bmc Neurology, 2023

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Zhang Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J et al.

Clinical Genetics, 2012

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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."