Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.G69Splc
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GNMT

NM_018960.6:p.G69Splc

Associated Papers

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Fernández-Caballero L et al.

International Journal of Molecular Sciences, 2024

38474159 (PubMed )
Supplement: ijms-25-02913-s001.zip › ijms-2879246-supplementary.xlsx › Table_S1
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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."