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MTHFR c.82_84delinsAAG ;(p.D28K)
Variant ID: 1-11863090-ATC-CTT
NM_005957.4(
MTHFR
):c.82_84delinsAAG;(p.D28K)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The influence of choline treatment on behavioral and neurochemical autistic-like phenotype in Mthfr-deficient mice.
Translational Psychiatry
Agam, Galila G; Taylor, Zoe Z; Vainer, Ella E; Golan, Hava M HM
Publication Date: 2020-09-18
Variant appearance in text: MTHFR: D28k
PubMed Link:
32948746
Variant Present in the following documents:
41398_2020_Article_1002.pdf
View BVdb publication page
Association of Vitamin D deficiency and Vitamin D Receptor Gene Polymorphisms with Type 2 diabetes mellitus Saudi patients.
African Health Sciences
Al-Hazmi, Ayman S AS
Publication Date: 2019-12
Variant appearance in text: MTHFR: D28K
PubMed Link:
32127856
Variant Present in the following documents:
AFHS1904-2812.pdf
View BVdb publication page
Vitamins and type 2 diabetes mellitus.
Endocrine, Metabolic & Immune Disorders Drug Targets
Valdés-Ramos, Roxana R; Guadarrama-López, Ana Laura AL; Martínez-Carrillo, Beatriz Elina BE; Benítez-Arciniega, Alejandra Donají AD
Publication Date: 2015
Variant appearance in text: MTHFR: D28K
PubMed Link:
25388747
Variant Present in the following documents:
Main text
EMIDDT-15-54.pdf
View BVdb publication page
Top Three Pharmacogenomics and Personalized Medicine Applications at the Nexus of Renal Pathophysiology and Cardiovascular Medicine.
Current Pharmacogenomics And Personalized Medicine
Bochud, Murielle M; Burnier, Michel M; Guessous, Idris I
Publication Date: 2011-12
Variant appearance in text: MTHFR: D28k
PubMed Link:
23049672
Variant Present in the following documents:
CPPM-9-299.pdf
View BVdb publication page