Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.S270T
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C6

NM_000065.5:p.S270T

Associated Papers

Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.

Okada R et al.

The Journal of Biological Chemistry, 2025

40409549 (PubMed )
Supplement: mmc1.docx

Surfactant protein D (SP-D) deficiency is attenuated in humanised mice expressing the Met(11)Thr short nucleotide polymorphism of SP-D: implications for surfactant metabolism in the lung.

Knudsen L et al.

Journal of Anatomy, 2013

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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."