Varaico: Literature-Extracted Genetic Variants

Gene:GPC6
Variant:p.L260F
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GPC6

NM_005708.5:p.L260F

Associated Papers

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Campos-Xavier AB et al.

American Journal of Human Genetics, 2009

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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."