Varaico: Literature-Extracted Genetic Variants

Gene:TMEM107
Variant:p.M1T
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TMEM107

NM_183065.4:p.M1T

Associated Papers

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2021

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM et al.

Nature Genetics, 2016

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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."