Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.V405M
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MASP2

NM_006610.4:p.V405M

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

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

Srour M et al.

Clinical Genetics, 2015

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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."