Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.V22M
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MASP1

NM_139125.4:p.V22M

Associated Papers

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1

Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.

Chen X et al.

Journal of Nephrology, 2023

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.

Phan ANL et al.

Molecular Genetics & Genomic Medicine, 2020

32154999 (PubMed )
Supplement: MGG3-8-e1216-s001.docx

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J et al.

Journal of Human Genetics, 2013

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