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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADH5

Variant:p.T313_K315del0

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ADH5

NM_000671.4:p.T313_K315del0

hg38:chr4:99074931 TTCCATG>T

Associated Papers

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

Wang HH et al.

The Journal of Clinical Investigation, 2024

37943610 (PubMed )

Supplement: jci-134-170054-s158.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."