Publications:

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Association analysis and functional annotation of imputed sequence data within genomic regions influencing resistance to gastro-intestinal parasites detected by an LDLA approach in a nucleus flock of Sarda dairy sheep.

Genetics, Selection, Evolution : Gse

Casu, Sara S; Usai, Mario Graziano MG; Sechi, Tiziana T; Salaris, Sotero L SL; Miari, Sabrina S; Mulas, Giuliana G; Tamponi, Claudia C; Varcasia, Antonio A; Scala, Antonio A; Carta, Antonello A

Publication Date: 2022-01-03

Variant appearance in text: MTHFR: 203G>A

PubMed Link: 34979909

Variant Present in the following documents:

• 12711_2021_690_MOESM3_ESM.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MTHFR: R68Q; rs2066472

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MTHFR: R68Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Association study of folate-related enzymes (MTHFR, MTR, MTRR) genetic variants with non-obstructive male infertility in a Polish population.

Genetics And Molecular Biology

Kurzawski, Mateusz M; Wajda, Anna A; Malinowski, Damian D; Kazienko, Anna A; Kurzawa, Rafal R; Drozdzik, Marek M

Publication Date: 2015-03

Variant appearance in text: rs2066472

PubMed Link: 25983623

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-38-1-42.pdf

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Significant impact of the MTHFR polymorphisms and haplotypes on male infertility risk.

Plos One

Gupta, Nishi N; Sarkar, Saumya S; David, Archana A; Gangwar, Pravin Kumar PK; Gupta, Richa R; Khanna, Gita G; Sankhwar, Satya Narayan SN; Khanna, Anil A; Rajender, Singh S

Publication Date: 2013

Variant appearance in text: MTHFR: 203G>A; R68Q; rs2066472

PubMed Link: 23874907

Variant Present in the following documents:

• Main text
• pone.0069180.pdf

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Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura.

Cephalalgia : An International Journal Of Headache

Roecklein, Kathryn A KA; Scher, Ann I AI; Smith, Albert A; Harris, Tamara T; Eiriksdottir, Gudny G; Garcia, Melissa M; Gudnason, Villi V; Launer, Lenore J LJ

Publication Date: 2013-05

Variant appearance in text: MTHFR: Arg68Gln; rs2066472

PubMed Link: 23430981

Variant Present in the following documents:

• Main text

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs2066472

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

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Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

Plos One

Ravel, Celia C; Chantot-Bastaraud, Sandra S; Chalmey, Clementine C; Barreiro, Luis L; Aknin-Seifer, Isabelle I; Pfeffer, Jerome J; Berthaut, Isabelle I; Mathieu, E Emmanuelle EE; Mandelbaum, Jacqueline J; Siffroi, Jean-Pierre JP; McElreavey, Ken K; Bashamboo, Anu A

Publication Date: 2009-08-06

Variant appearance in text: MTHFR: 203G>A; R68Q; rs2066472

PubMed Link: 19657388

Variant Present in the following documents:

• Main text
• pone.0006540.pdf

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Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

Molecular Vision

Hudson, Gavin G; Yu-Wai-Man, Patrick P; Zeviani, Massimo M; Chinnery, Patrick F PF

Publication Date: 2009

Variant appearance in text: rs2066472

PubMed Link: 19421414

Variant Present in the following documents:

• Main text

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Accounting for human polymorphisms predicted to affect protein function.

Genome Research

Ng, Pauline C PC; Henikoff, Steven S

Publication Date: 2002-03

Variant appearance in text: MTHFR: R68Q

PubMed Link: 11875032

Variant Present in the following documents:

• Main text

View BVdb publication page

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