Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.F201fs
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ITGB4

NM_000213.5:p.F201fs

Associated Papers

Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.

Gao Z et al.

American Journal of Obstetrics and Gynecology, 2026

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.

Klangjorhor J et al.

International Journal of Genomics, 2025

Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.

Zhou X et al.

The Journal of Dermatology, 2021

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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."