6 ms·
It is open access though, and linked at the bottom of the article: https://www.nature.com/articles/s41591-023-02318-3 https://www.nature.com/articles/s41591-02
by panax 3y ago
It is open access though, and linked at the bottom of the article:
https://www.nature.com/articles/s41591-023-02318-3 https://www.nature.com/articles/s41591-023-02318-3
- FollowingTheDao 3y agoThanks, still cannot fine the SNP for the RELN-H3447R mutant though...
- elsherbini 3y agoI believe it is rs201731543 Found it by going to the list of all alleles of that gene (https://ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/Table?db=core;g=ENSG00000189056;r=7:103471789-103989658;t=ENST00000428762 https://ensembl.org/Homo_sapiens/Transcript/Variation_Transc...) and looking for one that changes the 3444th amino acid from an H to an R
- FollowingTheDao 3y agoThank you! Too bad 23andMe does not pull that SNP.