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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A1

Variant:p.R984H

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COL11A1

NM_001854.4:p.R984H

hg38:chr1:102962726 C>T

Associated Papers

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone MP et al.

Human Genetics, 2023

37079061 (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."