Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.K167_G168Splc
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FHL1

NM_001159703.2:p.K167_G168Splc

Associated Papers

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.

Pen AE et al.

European Journal of Medical Genetics, 2015

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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."