Varaico: Literature-Extracted Genetic Variants

Gene:PAPPA2
Variant:p.R374W
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PAPPA2

NM_020318.3:p.R374W

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504
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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."