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Updated: Jun 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

Rett variants: a suggested model for inclusion criteria

B A Hagberg1, O H Skjeldal

  • 1Department of Pediatrics, Ostra Sjukhuset, Göteborg, Sweden.

Pediatric Neurology
|July 1, 1994
PubMed
Summary

A new model helps clinically identify atypical Rett syndrome variants in females. It uses primary and supportive criteria, aiding diagnosis and distinguishing it from other developmental disorders.

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