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https://www.jci.org/articles/view/117052/scanned-page/1041
JCI - Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in...
jciidentificationnovelexonicmutation
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1353674/full
Frontiers | Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay
ABSTRACT Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply...
in thephex genefrontiersthreeexonic
https://pubmed.ncbi.nlm.nih.gov/38035881/
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine...
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds in 2014; its...
trinucleotide repeatspinocerebellar ataxiaexonicexpansionscause