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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WNK1

Variant:p.T2220_D2221insC

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WNK1

NM_213655.5:p.T2220_D2221insC

hg38:chr12:896389 A>ANNN

Associated Papers

Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.

Nam DE et al.

Journal of the Peripheral Nervous System : Jpns, 2018

29341343 (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."