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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LOXHD1

Variant:p.S960*

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LOXHD1

NM_001384474.1:p.S960*

hg38:chr18:46560265 G>T

Associated Papers

Expanding the LOXHD1 Mutational Spectrum: A North Indian Case of ARNSHL.

Chheda P et al.

Annals of Human Genetics, 2026

40719228 (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."