Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.V133L
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FMR1

NM_002024.6:p.V133L

Associated Papers

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Thomas L et al.

Journal of Medical Genetics, 2024

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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."