Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.S198Splc
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PFKM

NM_000289.6:p.S198Splc

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 › DBASS3_index

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Musumeci O et al.

Neuromuscular Disorders : Nmd, 2012

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

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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."