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.




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
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