Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.S141Splc
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HMBS

NM_000190.4:p.S141Splc

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

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.

Kauppinen R et al.

Clinical Chemistry, 2002

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.

Martinez di Montemuros F et al.

Human Mutation, 2000

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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."