Varaico: Literature-Extracted Genetic Variants

Gene:HMMR
Variant:p.E213Q
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HMMR

NM_012484.3:p.E213Q

Associated Papers

A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.

Li Y et al.

Annals of Human Genetics, 2020

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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."