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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MATR3

Variant:p.R595R

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MATR3

NM_018834.6:p.R595R

hg38:chr5:139322604 A>G

Associated Papers

Genetic variations in pseudoachondroplasia: a review of case reports.

Petryka L et al.

Laboratory Medicine, 2025

40249137 (PubMed )

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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."