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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL27A1

Variant:p.R1348_G1349Splc

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COL27A1

NM_032888.4:p.R1348_G1349Splc

hg38:chr9:114288513 T>C

Associated Papers

Regions of homozygosity and a novel variant in Steel syndrome: An added dilemma to diagnosis.

Thakur S et al.

Journal of Postgraduate Medicine, 0

36695248 (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."