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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRFIP1

Variant:p.I253V

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LRRFIP1

NM_001137550.2:p.I253V

hg38:chr2:237749286 A>G

Associated Papers

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW et al.

Clinical Genetics, 2019

30506946 (PubMed )

Supplement: CGE-95-375-s001.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."