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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ12

Variant:p.L209F

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KCNJ12

NM_021012.5:p.L209F

hg38:chr17:21415967 C>T

Associated Papers

Genome mining yields putative disease-associated ROMK variants with distinct defects.

Nguyen NH et al.

Plos Genetics, 2023

37956218 (PubMed )

Supplement: pgen.1011051.s010.docx

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