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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEFM

Variant:p.C294Y

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NEFM

NM_005382.2:p.C294Y

hg38:chr8:24914674 G>A

Associated Papers

Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.

Hanson MG et al.

Developmental Biology, 2014

25176044 (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."