Varaico: Literature-Extracted Genetic Variants

Gene:BPNT2
Variant:p.E234*
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BPNT2

NM_017813.5:p.E234*

Associated Papers

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

Liu W et al.

Orphanet Journal of Rare Diseases, 2023

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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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."