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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLDN

Variant:p.H536_M538del0

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GLDN

NM_181789.4:p.H536_M538del0

hg38:chr15:51404703 CCATTTAATG>C

Associated Papers

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Frezatti RSS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

40930584 (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."