Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.R328W
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NEFH

NM_021076.4:p.R328W

Associated Papers

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

Tristán-Noguero A et al.

Metabolic Brain Disease, 2016

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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."