Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.T128M
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MASP2

NM_006610.4:p.T128M

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Larsen CP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Srour M et al.

Clinical Genetics, 2015

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."