Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.A2755del1
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COL12A1

NM_004370.6:p.A2755del1

Associated Papers

Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome.

Furuhata-Yoshimura M et al.

American Journal of Medical Genetics. Part A, 2023

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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."