Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.P90L
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MAD2L1BP

NM_014628.3:p.P90L

Associated Papers

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71].

Luigetti M et al.

Clinical Neurology and Neurosurgery, 2016

BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

Cen Z et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2015

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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."