Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P1186L
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COL2A1

NM_001844.5:p.P1186L

Associated Papers

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Wilson PJ et al.

Human Molecular Genetics, 1996

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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."