Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP
Variant:p.L67Q
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BGLAP

NM_199173.6:p.L67Q

Associated Papers

Naturally occurring UBIAD1 mutations differentially affect menaquinone biosynthesis and vitamin K-dependent carboxylation.

Chen X et al.

The Febs Journal, 2022

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Zhou G et al.

Human Molecular Genetics, 1999

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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."