Publications:

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Clinical Genetics

Kaseniit, Kristjan E KE; Collins, Elizabeth E; Lo, Christine C; Moyer, Krista K; Mar-Heyming, Rebecca R; Kang, Hyunseok P HP; Muzzey, Dale D

Publication Date: 2019-09

Variant appearance in text: PC: 796T>G

PubMed Link: 31170325

Variant Present in the following documents:

• CGE-96-236-s003.pdf

View BVdb publication page

Pregnenolone sulfate block of GABA(A) receptors: mechanism and involvement of a residue in the M2 region of the alpha subunit.

The Journal Of Physiology

Akk, G G; Bracamontes, J J; Steinbach, J H JH

Publication Date: 2001-05-01

Variant appearance in text: PC: S266A

PubMed Link: 11313438

Variant Present in the following documents:

• Main text

View BVdb publication page