Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.R354C
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MBTPS2

NM_015884.4:p.R354C

Associated Papers

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

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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."