Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.Y771*
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MTTP

NM_001386140.1:p.Y771*

Associated Papers

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

Hammer MB et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.

Vlasschaert C et al.

Journal of Investigative Medicine High Impact Case Reports, 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."