Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.H110Y
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RYR1

NM_000540.3:p.H110Y

Associated Papers

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2019

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."