Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.H2268R
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FLG

NM_002016.2:p.H2268R

Associated Papers

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S4.xlsx › Mutations_in_LCM_samples

Linked-read based analysis of the medulloblastoma genome.

Zwaig M et al.

Frontiers in Oncology, 2023

Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.

Liu Y et al.

Iscience, 2022

36060063 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.

Tang J et al.

Genome Medicine, 2021

34507604 (PubMed )
Supplement: 13073_2021_962_MOESM3_ESM.xlsx › CRC4

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Yamamoto K et al.

American Journal of Medical Genetics. Part A, 2020

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS39

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Ayres-Silva JP et al.

Frontiers in Oncology, 2018

29515972 (PubMed )
Supplement: table_1.xlsx › suppl_table_1
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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."