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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.E1033fs

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COL2A1

NM_001844.5:p.E1033fs

hg38:chr12:47978024 TTC>N

Associated Papers

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

Al-Sannaa NA et al.

European Journal of Medical Genetics, 2020

32896647 (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."