Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.P192S
Back to variants list

FH

NM_000143.4:p.P192S

Associated Papers

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_COSMIC

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation

Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.

Kamai T et al.

Bmc Cancer, 2016

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_11

Protein profiling of blood samples from patients with hereditary leiomyomatosis and renal cell cancer by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry.

Kamai T et al.

International Journal of Molecular Sciences, 2012

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."