Varaico: Literature-Extracted Genetic Variants

Gene:PFAS
Variant:p.R1205C
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PFAS

NM_012393.3:p.R1205C

Associated Papers

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Zikanova M et al.

Journal of Inherited Metabolic Disease, 2025

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Caivio-Nasner S et al.

Tropical Animal Health and Production, 2021

Short communication: Lethal mutations in Vorderwald cattle through Montbéliarde incrossings.

Reinartz S et al.

Journal of Dairy Science, 2020

A missense mutation in PFAS (phosphoribosylformylglycinamidine synthase) is likely causal for embryonic lethality associated with the MH1 haplotype in Montbéliarde dairy cattle.

Michot P et al.

Journal of Dairy Science, 2017

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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."