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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MASP1

Variant:p.A537P

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MASP1

NM_139125.4:p.A537P

hg38:chr3:187236262 C>G

Associated Papers

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

33584783 (PubMed )

Supplement: Table_3.xlsx › Supplementary_Table_3

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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."