Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.Q567*
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C6

NM_000065.5:p.Q567*

Associated Papers

Paravertebral ligament ossification in vitamin D-resistant rickets: incidence, clinical significance, and genetic evaluation.

Lee SH et al.

Spine, 2012

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

Coll MJ et al.

Clinical Genetics, 2005

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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."