Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.C230Y
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NEU1

NM_000434.4:p.C230Y

Associated Papers

Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers.

Uzun ÖÜ et al.

Pediatric Nephrology (berlin, Germany), 2021

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Caciotti A et al.

The American Journal of Pathology, 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."