Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.T323del1
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COL11A2

NM_080680.3:p.T323del1

Associated Papers

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Tompson SW et al.

American Journal of Medical Genetics. Part A, 2012

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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."