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. 2024 Feb 19;11:1366769. doi: 10.3389/fmed.2024.1366769

Table 3.

PALB2 gene mutation associated with RECQL gene.

Exo DNA alteration Protein alteration PALB2 gene mutation
16 c.644G > A p.Arg215Gln c.1676A > G
15 c.700 + 1G > T
16 c.199G > A p.Ala67Thr
16 c.1729A > C p.Asn577His
16 c.1361G > A p.Arg454His
16 c.1805C > T p.Ser602Leu c.1676A > G/c.3114-1G > A
16 c.1361G > A p.Arg454His c.925A > G/c.3379 T > C
16 c.2 T > C p.Met1? c.3122A > C/c.1676A > G/c.3054G > C
16 c.1114G > A p.Val372Ile c.925A > G/ c.1676A > G
16 c.1088A > G p.Asn363Se