Genetic Characteristics of Brazilian Patients with MH History

In this preliminary evaluation of Brazilian individuals with MH history, the frequency of <i>RYR1</i> variants was similar to those of previous reports in other countries, but there was a higher frequency of <i>STAC3</i> and <i>CACNA1S</i> variants.

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Publication Details

Journal
Genes
Published
2025-09-25
DOI
https://doi.org/10.3390/genes16101127
Citations
1
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
1.82
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article

Genetic Characteristics of Brazilian Patients with MH History

Pamela Vieira Andrade, Joilson Moura dos Santos, Figueras Antonio, Mariz Vainzof et al.
1 citations
Genes
Genetics and Neurodevelopmental Disorders
1.82
article

Genetic Characteristics of Brazilian Patients with MH History

Pamela Vieira Andrade, Joilson Moura dos Santos, Figueras Antonio, Mariz Vainzof, Felipe Tadeu Galante Rocha de Vasconcelos, Acary Souza Bullé Oliveira, D. Mendonça, Helga Cristina Almeida da Silva, Lucas Santos Souza, Brandow Willy Souza
article en
1 citations

Abstract

In this preliminary evaluation of Brazilian individuals with MH history, the frequency of <i>RYR1</i> variants was similar to those of previous reports in other countries, but there was a higher frequency of <i>STAC3</i> and <i>CACNA1S</i> variants.

GenesVol. 16(10)
Stem Cell Institute (PA), Universidade Federal de São Paulo (BR)
Openalex Percentile: Top 12%
Genetics and Neurodevelopmental Disorders
1.82
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