Varaico: Literature-Extracted Genetic Variants

Gene:MUC3A
Variant:p.D442A
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MUC3A

NM_005960.2:p.D442A

Associated Papers

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

Liu Z et al.

Journal of Medical Genetics, 2022

33811136 (PubMed )
Supplement: jmedgenet-2020-107383supp002.xlsx › Supplementary_Table_xx

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1
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