Publications:

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Orphanet Journal Of Rare Diseases

Gales, Ana A; Masingue, Marion M; Millecamps, Stephanie S; Giraudier, Stephane S; Grosliere, Laure L; Adam, Claude C; Salim, Claudio C; Navarro, Vincent V; Nadjar, Yann Y

Publication Date: 2018-02-01

Variant appearance in text: MTHFR: 1162C>T; Arg388Cys

PubMed Link: 29391032

Variant Present in the following documents:

• Main text
• 13023_2018_Article_767.pdf

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MTHFR: R388C; rs200138092

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page