Varaico: Literature-Extracted Genetic Variants

Gene:LITAF
Variant:p.P135R
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LITAF

NM_001136472.2:p.P135R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Gentile L et al.

Brain Sciences, 2021

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Gentile L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Ciotti P et al.

Journal of the Neurological Sciences, 2014

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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."