Variation name pathogenic

Question

[win]

Hi all, i have a genomic variant C.NM_000137.2:c.1021C>T, and i wanted to know how to where in literature it states it's pathogenic. For e.g. this link: http://www.jbc.org/content/276/18/15225.long talks about all the FAH variants but how do i know where this variation is stated pathogenic.

Thanks in advance

[WouterDeCoster]

You could have a look whether your variant is described as pathogenic in https://www.ncbi.nlm.nih.gov/clinvar/

Answer 1

[win]

I know it says pathogenic in ClinVar, i wanted evidence in literature.

[WouterDeCoster]

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