Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.G340R
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SLC52A2

NM_001363118.2:p.G340R

Associated Papers

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Ros-Pérez P et al.

Bmc Pediatrics, 2012

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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."