A report of two homozygous TERB1 protein‑truncating variants in two unrelated women with primary infertility

Yalcin Z, Liang M, Abdelrazek IM, Friedrich C, Bareke E, Nabil A, Tüttelmann F, Majewski J, Abdalla E, Tan SL, Slim R, 26.01.2024

Yalcin Z, Liang M, Abdelrazek IM, Friedrich C, Bareke E, Nabil A, Tüttelmann F, Majewski J, Abdalla E, Tan SL, Slim R. A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. J Assist Reprod Genet. 2024 Mar;41(3):751-756. doi: 10.1007/s10815-024-03031-x.

Publication: https://doi.org/10.1007/s10815-024-03031-x

Disclaimer

The publication A report of two homozygous TERB1 protein‑truncating variants in two unrelated women with primary infertility by Yalcin Z, Liang M, Abdelrazek IM, Friedrich C, Bareke E, Nabil A, Tüttelmann F, Majewski J, Abdalla E, Tan SL, Slim R is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.

Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.

Data set 1: Whole Exome Sequencing in Two Azoospermic Brothers Reveals Pathogenic TERB1 Variants Associated with Infertility

Exome: Whole Exome Sequencing

Species

Species
Human

Conditions

Human phenotype ontology	Participants	Comment
HP:0011961: Non-obstructive azoospermia	1	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
HP:0000027: Azoospermia	1	Absence of any measurable level of sperm, whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.

Tissue Types

BRENDA tissue ontology	Maturity	Description	Species	Replicates
BTO_0000553: peripheral blood	adult	Blood circulating throughout the body.	Human	2

Cell Types

Cell ontology	Maturity	Description	Species	Replicates	Cells per replicate
CL_0000081: blood cell	adult	A cell found predominately in the blood.	Human	2