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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLOD1

Variant:p.R693fs

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PLOD1

NM_000302.4:p.R693fs

hg38:chr1:11974701 AGG>N

Associated Papers

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.

Liang B et al.

Journal of Human Genetics, 2022

35896820 (PubMed )

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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."