Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.L507R
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MFN1

NM_033540.3:p.L507R

Associated Papers

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Walsh DM et al.

European Journal of Medical Genetics, 2013

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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."