Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.D27_P28Splc
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FAH

NM_000137.4:p.D27_P28Splc

Associated Papers

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.

Yazdani AH et al.

Biochemical Genetics, 2025

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G et al.

Gene, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
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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."