Varaico: Literature-Extracted Genetic Variants

Gene:FTCD
Variant:p.Q79P
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FTCD

NM_206965.2:p.Q79P

Associated Papers

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1

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

Ahrens-Nicklas RC et al.

Journal of Inherited Metabolic Disease, 2019

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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."