Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.K60_S61Splc
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COMMD1

NM_152516.4:p.K60_S61Splc

Associated Papers

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.

Lovicu M et al.

Journal of Gastroenterology, 2006

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