Varaico: Literature-Extracted Genetic Variants

Gene:UPK3A
Variant:p.S87*
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UPK3A

NM_006953.4:p.S87*

Associated Papers

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.

Norris EJ et al.

Gynecologic Oncology Reports, 2018

29892687 (PubMed )
Supplement: mmc1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12
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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."