Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V287L
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MECP2

NM_001110792.2:p.V287L

Associated Papers

Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.

Ganakammal SR et al.

Peerj, 2019

31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Buyse IM et al.

American Journal of Human Genetics, 2000

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