Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.D39G
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GC

NM_000583.4:p.D39G

Associated Papers

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Arriaga MT et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

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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."