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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR47

Variant:p.M31I

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WDR47

NM_001142551.2:p.M31I

hg38:chr1:109023420 C>T

Associated Papers

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Deneubourg C et al.

Autophagy, 2022

34130600 (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."