Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.D246E
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MUC5AC

NM_001304359.2:p.D246E

Associated Papers

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM4_ESM.xlsx › Sheet1

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Mkaouar R et al.

Plos One, 2021

34614013 (PubMed )
Supplement: pone.0258202.s003.xlsx › MAN2B1_gene_network_Phenolyzer

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Jiang P et al.

Frontiers in Genetics, 2019

31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
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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."