Open AccessProgressive cerebellar atrophy caused by heterozygous TECPR2 mutations
Author(s) -
Ramsey Keri,
Belnap Newell,
Bonfitto Anna,
Jepsen Wayne,
Naymik Marcus,
SanchezCastillo Meredith,
Craig David W.,
Szelinger Szabolcs,
Huentelman Matthew J.,
Narayanan Vinodh,
Rangasamy Sampath
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1857
Subject(s) - atrophy , medicine , genetics , mutation , cerebellum , heterozygote advantage , pathology , biology , gene , allele