Varaico: Literature-Extracted Genetic Variants

Gene:FTCD
Variant:p.C107R
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FTCD

NM_206965.2:p.C107R

Associated Papers

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Ahrens-Nicklas RC et al.

Journal of Inherited Metabolic Disease, 2019

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R et al.

Molecular Genetics & Genomic Medicine, 2017

Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).

Nannini M et al.

Bmc Cancer, 2014

25239601 (PubMed )
Supplement: 12885_2014_4877_MOESM1_ESM.xlsx › Foglio1
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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."