Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P2847H
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COL7A1

NM_000094.4:p.P2847H

Associated Papers

Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy.

Pingel J et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019

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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."