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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FMR1

Variant:p.M140Splc

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FMR1

NM_002024.6:p.M140Splc

hg38:chrX:147928809 T>A

Associated Papers

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E et al.

Brain : a Journal of Neurology, 2006

16684786 (PubMed )

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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."