Varaico: Literature-Extracted Genetic Variants

Gene:TMEM38B
Variant:p.G152Splc
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TMEM38B

NM_018112.3:p.G152Splc

Associated Papers

Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature.

Zoller T et al.

International Journal of Molecular Sciences, 2025

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.

Ramzan K et al.

Discoveries (craiova, Romania), 2021

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Cao YJ et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.

Lv F et al.

Journal of Human Genetics, 2016

TRIC-B Mutations Causing Osteogenesis Imperfecta.

Ichimura A et al.

Biological & Pharmaceutical Bulletin, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."