Varaico: Literature-Extracted Genetic Variants

Gene:MUC3A
Variant:p.A531T
Back to variants list

MUC3A

NM_005960.2:p.A531T

Associated Papers

Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome.

Shirvani P et al.

Current Issues in Molecular Biology, 2024

Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.

Rautajoki KJ et al.

Acta Neuropathologica Communications, 2023

37932833 (PubMed )
Supplement: 40478_2023_1669_MOESM1_ESM.xlsx › Table_S3

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_1.xlsx › Patient_1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."