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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEFH

Variant:p.G280D

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NEFH

NM_021076.4:p.G280D

hg38:chr22:29481101 G>A

Associated Papers

Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.

Aynaashe A et al.

Amino Acids, 2026

41621017 (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."