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. 2019 Apr 17;14:82. doi: 10.1186/s13023-019-1046-0

Table 2.

Frequency of rare variants in genes coding for proteins involved in DNA-Repair

Dyskeratosis/Anemia Pulmonary Fibrosis
ATM/ATR 8/23 (35%) 3/18 (17%)
BRCA1, BRCA2, PALB2 6/23 (26%) 3/18 (17%)
FANC-A, −D2, −F, −L, −M, −U 5/23 (22%) 4/18 (22%)
RECQL4 4/23 (17%) 2/18 (11%)
SLX4 5/23 (22%) 1/18 (6%)
WRN, BLM, NBN, RAD51, RAD51C 2/23 (9%) 3/18 (17%)