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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.L254L

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ACE

NM_000789.4:p.L254L

hg38:chr17:63480443 C>T

Associated Papers

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.

Hytönen MK et al.

Plos Genetics, 2025

39804930 (PubMed )

Supplement: pgen.1011328.s009.xlsx › LH_AI_1WGS_REC_0_0_050223

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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."