Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.L76P
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MAD2L1BP

NM_014628.3:p.L76P

Associated Papers

Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.

Babu K et al.

Ophthalmic Genetics, 2023

Yield of next-generation neuropathy gene panels in axonal neuropathies.

Lee DC et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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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."