Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.L183P
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TTPA

NM_000370.3:p.L183P

Associated Papers

Chloroplast-localized PITP7 is essential for plant growth and photosynthetic function in Arabidopsis.

Kim EH et al.

Physiologia Plantarum, 2022

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M et al.

Pediatric Research, 2008

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004

Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency.

Min KC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Triepels RH et al.

Annals of Neurology, 1999

[Vitamin E deficiency ataxia in a family with possible cardiac involvement].

Lucas-Del-Pozo S et al.

Neurologia, 0

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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."