Varaico: Literature-Extracted Genetic Variants

Gene:NPBWR1
Variant:p.Y135F
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NPBWR1

NM_005285.5:p.Y135F

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

Lazo PA et al.

International Journal of Molecular Sciences, 2020

32585800 (PubMed )
Supplement: ijms-21-04447-s001.pdf

A case report of multiple primary prostate tumors with differential drug sensitivity.

Wilkinson S et al.

Nature Communications, 2020

32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

A single nucleotide polymorphism of the neuropeptide B/W receptor-1 gene influences the evaluation of facial expressions.

Watanabe N et al.

Plos One, 2012

Identification of 156 novel SNPs in 29 genes encoding G-protein coupled receptors.

Iida A et al.

Journal of Human Genetics, 2005

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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."