Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P2029fs
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COL7A1

NM_000094.4:p.P2029fs

Associated Papers

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

Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.

Suru A et al.

Cureus, 2024

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Predominance of Staphylococcus Correlates with Wound Burden and Disease Activity in Dystrophic Epidermolysis Bullosa: A Prospective Case-Control Study.

Reimer-Taschenbrecker A et al.

The Journal of Investigative Dermatology, 2022

[Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study].

Thiem A et al.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2022

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-7

Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer.

Brodsky AS et al.

Bmc Cancer, 2022

Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Li Z et al.

Science Advances, 2020

32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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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."