Varaico: Literature-Extracted Genetic Variants

Gene:ZNHIT1
Variant:p.R139H
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ZNHIT1

NM_006349.3:p.R139H

Associated Papers

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.

Elpidorou M et al.

European Journal of Human Genetics : Ejhg, 2022

35217805 (PubMed )
Supplement: 41431_2022_1050_MOESM1_ESM.pdf
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