Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogenicity of FMR1 coding, noncoding, and copy number va...

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Detalles Bibliográficos
Autores principales: Tekendo-Ngongang, Cedrik, Grochowsky, Angela, Solomon, Benjamin D., Yano, Sho T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623550/
https://www.ncbi.nlm.nih.gov/pubmed/34828275
http://dx.doi.org/10.3390/genes12111669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623550/
https://www.ncbi.nlm.nih.gov/pubmed/34828275
http://dx.doi.org/10.3390/genes12111669

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