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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTR

Variant:p.V1002L

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MTR

NM_000254.3:p.V1002L

hg38:chr1:236889333 G>C

Associated Papers

Phenotype Spectrum of TRPM3-Associated Disorders.

Jolitz L et al.

Annals of Neurology, 2025

39749750 (PubMed )

Supplement: ANA-97-561-s001.docx

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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."