Varaico: Literature-Extracted Genetic Variants

Gene:LITAF
Variant:p.C127Y
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LITAF

NM_001136472.2:p.C127Y

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.

Grimm A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017

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