Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B.
Kvarnung M, et al. Among authors: chun on p.
Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39616267