Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.G127Splc
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FHL1

NM_001159699.2:p.G127Splc

Associated Papers

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

Brown CA et al.

Journal of Human Genetics, 2011

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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."