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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB6

Variant:p.R375L

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ABCB6

NM_005689.4:p.R375L

hg38:chr2:219216027 C>A

Associated Papers

Case Report: Familial Pseudohyperkalemia Due to Red Blood Cell Membrane Leak in a Chinese Patient.

Xiong W et al.

Frontiers in Medicine, 2022

35372423 (PubMed )

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