Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.R217R
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STAR

NM_000349.3:p.R217R

Associated Papers

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Boczek NJ et al.

American Journal of Medical Genetics. Part A, 2017

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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."