Varaico: Literature-Extracted Genetic Variants

Gene:LITAF
Variant:p.P91H
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LITAF

NM_001136472.2:p.P91H

Associated Papers

Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.

Kumar CV et al.

Journal of Biomolecular Structure & Dynamics, 2015

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Latour P et al.

Journal of the Peripheral Nervous System : Jpns, 2006

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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."