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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETAA1

Variant:p.S470_N471delFs

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ETAA1

NM_019002.4:p.S470_N471delFs

hg38:chr2:67404086 TAAATC>T

Associated Papers

Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2.

Lee Y et al.

Journal of Personalized Medicine, 2021

34201399 (PubMed )

Supplement: jpm-11-00526-s001.zip › jpm-1244920-supplementary.pdf

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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."