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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:R3HDM1

Variant:p.D364Y

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R3HDM1

NM_001378107.1:p.D364Y

hg38:chr2:135638993 G>T

Associated Papers

Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.

Cui Q et al.

Cell, 2023

36738734 (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."