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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC12A1

Variant:p.Y477N

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SLC12A1

NM_000338.3:p.Y477N

hg38:chr15:48244881 T>A

Associated Papers

Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.

Laghmani K

Cells, 2024

38786040 (PubMed )

AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.

Frachon N et al.

Cells, 2024

38474353 (PubMed )

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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."