Homo sapiens telomere repeat binding bouquet formation protein 1 (TERB - Nucleotide

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A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. [J Assist Reprod Genet. 2024]
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, et al. J Assist Reprod Genet. 2024 Mar; 41(3):751-756. Epub 2024 Jan 26.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. [Hum Genet. 2021]
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium, et al. Hum Genet. 2021 Jan; 140(1):217-227. Epub 2020 Nov 19.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. [Genet Med. 2020]
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, et al. Genet Med. 2020 Dec; 22(12):1956-1966. Epub 2020 Aug 3.

RefSeq alternative splicing
See 31 reference mRNA sequence splice variants for the TERB1 gene.
RefSeq protein product
See the reference protein sequence for telomere repeats-binding bouquet formation protein 1 (NP_001129977.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide