Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.V252I
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PLP1

NM_000533.5:p.V252I

Associated Papers

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy.

Alotaibi L et al.

Global Medical Genetics, 2023

Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders.

Feng T et al.

Acta Neuropathologica, 2021

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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."