Varaico: Literature-Extracted Genetic Variants

Gene:FARSB
Variant:p.E285K
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FARSB

NM_005687.5:p.E285K

Associated Papers

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings.

Karimzadeh P et al.

Clinical Case Reports, 2022

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

Zadjali F et al.

Human Mutation, 2018

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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."