Varaico: Literature-Extracted Genetic Variants

Gene:FUT6
Variant:p.P124S
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FUT6

NM_000150.4:p.P124S

Associated Papers

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Molecular analysis of plasma alpha 1,3-fucosyltransferase deficiency and development of the methods for its genotyping.

Tanaka S et al.

Experimental and Clinical Immunogenetics, 2001

Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles.

Elmgren A et al.

Human Mutation, 2000

Allelic diversity of the human plasma alpha(1,3)fucosyltransferase gene (FUT6).

Pang H et al.

Annals of Human Genetics, 1999

Identification of a new plasma alpha(1,3)fucosyltransferase (FUT6) allele requires an extended genotyping strategy.

Larson G et al.

Vox Sanguinis, 1996

Correlation of FUT3 and FUT6 Gene Polymorphisms With Helicobacter pylori Infection.

Zhou S et al.

Helicobacter, 0

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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."