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Updated: Jul 30, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner

Fabiola A Benítez Ríos1, Laura F Rodríguez-Fernández1, Norma J Arciniegas2,3

  • 1Biochemistry, Ponce Health Sciences University, Ponce, PRI.

Cureus
|May 14, 2023
PubMed

Keywords:
developmental and behavioural pediatricsgenetic syndromespediatric case reportpediatric geneticsrare genetic diseases

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