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. 2024 Aug 15;12:1360227. doi: 10.3389/fped.2024.1360227

Table 2.

Participants’ genetic study results.

Mutations in the CFTR gene n:24
Homozygous p.F508del 8
Homozygous p.G542X 2
Heterozygous p.F508del and heterozygous c.489+1G>T p.(?) 1
Heterozygous p.F508del and heterozygous (c.3846G>A; p.(Trp1282Ter) 2
Homozygous c.1312A>G p.(Thr438Ala) 1
Heterozygous c.3368-2A>G p.(?) and heterozygous c.580-1G>T p.(?) 1
Heterozygous c.1000C>T p.(Arg334Trp) and heterozygous c.3484C>T p.(Arg1162Ter) 1
Homozygous p.V470M 1
Homozygous c.3484C>T p.(Arg1162Ter) 1
Negative genetic study 5
Without genetic study 1

CFTR, cystic fibrosis transmembrane conductance regulator.