Kabbur AR

References (1)

Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446

Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A

Ref : American Journal of Medicine Genet A , 191 :2446 , 2023

Abstract :

PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446

PubMedID: 37337918

Gene_locus related to this paper: human-cb069

Kabbur AR

References (1)

1. A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446