Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.P199S
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EXOSC6

NM_058219.3:p.P199S

Associated Papers

Heterozygous NPR2 Variants in Idiopathic Short Stature.

Stavber L et al.

Genes, 2022

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

Couce ML et al.

Molecular Genetics and Metabolism, 2013

A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women.

Lose F et al.

Thorax, 2005

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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."