PMC7254980_01
Homozygous frameshift mutation in the LRBA-gene c.5505delT (p.Ile1836*). A. Electropherogram showing c.5505delT; B. Loss of c.5505 T causes a frameshift, which does not alter Leu1835 but results in predicted early protein termination at the adjacent amino residue p.Ile1836*
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PMC7254980_01_nihms-1590608-f0001.jpg
F1
A novel homozygous frameshift mutation in the LRBA-gene c.5505delT (p.Ile1836*) was highlighted as the causal variant in whole exome sequencing analysis (Fig. 1).