Varaico: Literature-Extracted Genetic Variants

Gene:CRLS1
Variant:p.I109_L113Fs
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CRLS1

NM_019095.6:p.I109_L113Fs

Associated Papers

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Song A et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

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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."