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MTHFR c.163_164delinsCT ;(p.S55L)
Variant ID: 1-11863010-GA-AG
NM_005957.4(
MTHFR
):c.163_164delinsCT;(p.S55L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy.
Cell Reports
Sayles, Nicole M NM; Southwell, Nneka N; McAvoy, Kevin K; Kim, Kihwan K; Pesini, Alba A; Anderson, Corey J CJ; Quinzii, Catarina C; Cloonan, Suzanne S; Kawamata, Hibiki H; Manfredi, Giovanni G
Publication Date: 2022-03-08
Variant appearance in text: MTHFR: S55L
PubMed Link:
35263592
Variant Present in the following documents:
Main text
nihms-1787422.pdf
View BVdb publication page