A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N, Kirola L, Geetha TS, Mittal K, Kadandale J, Yogev Y, Birk OS, Gupta N, Balakrishnan P, Jana M, Gupta M, Kabra M, Thelma BK.
Yadav N, et al. Among authors: kadandale j.
Ann Hum Genet. 2022 Sep;86(5):245-256. doi: 10.1111/ahg.12469. Epub 2022 Apr 22.
Ann Hum Genet. 2022.
PMID: 35451063