Associated Papers
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.
Kishi H et al.
Clinical Case Reports, 2020
Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.
Shirley BC et al.
F1000research, 2018
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