Varaico: Literature-Extracted Genetic Variants

Gene:FGF4
Variant:p.P175S
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FGF4

NM_002007.4:p.P175S

Associated Papers

A developmental biliary lineage program cooperates with Wnt activation to promote cell proliferation in hepatoblastoma.

Wu PV et al.

Nature Communications, 2024

39567523 (PubMed )
Supplement: 41467_2024_53802_MOESM1_ESM.pdf

Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.

Bugueno IM et al.

Genes & Diseases, 2024

38721411 (PubMed )
Supplement: mmc2.pdf

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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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."