Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.K319M
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NR0B1

NM_000475.5:p.K319M

Associated Papers

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.

Sun H et al.

Frontiers in Genetics, 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."