Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.R617C
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SLC20A2

NM_001257180.2:p.R617C

Associated Papers

Identification of novel germline mutations in FUT7 and EXT1 linked with hereditary multiple exostoses.

Peng W et al.

Oncogene, 2025

A mutation in SLC20A2 (c.C1849T) promotes proliferation while inhibiting hypertrophic differentiation in ATDC5 chondrocytes.

Li Y et al.

Bone & Joint Research, 2020

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Li Y et al.

Molecular Medicine Reports, 2020

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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."