Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.Q260_G261Splc
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MTHFR

NM_005957.5:p.Q260_G261Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

Compensatory signals associated with the activation of human GC 5' splice sites.

Kralovicova J et al.

Nucleic Acids Research, 2011

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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."