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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP12A

Variant:p.L200R

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ATP12A

NM_001676.7:p.L200R

hg38:chr13:24690390 T>G

Associated Papers

Chloride channels in renal disease.

Thakker RV

Advances in Nephrology From the Necker Hospital, 1999

10561751 (PubMed )

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.

Thakker RV

Experimental Nephrology, 0

11014932 (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."