Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.Q487*
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P3H1

NM_022356.4:p.Q487*

Associated Papers

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Pepin MG et al.

Molecular Genetics & Genomic Medicine, 2013

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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."