Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.H237Y
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FMR1

NM_002024.6:p.H237Y

Associated Papers

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Turner TJ et al.

Journal of Neurochemistry, 2021

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."