Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.L828L
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RECQL4

NM_004260.4:p.L828L

Associated Papers

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

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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."