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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEFH

Variant:p.E714E

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NEFH

NM_021076.4:p.E714E

hg38:chr22:29489782 A>G

Associated Papers

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C et al.

Acta Neurologica Belgica, 2018

30317490 (PubMed )

Supplement: 13760_2018_1029_MOESM3_ESM.pdf

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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."