Varaico: Literature-Extracted Genetic Variants

Gene:TMEM38B
Variant:p.F21insFs
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TMEM38B

NM_018112.3:p.F21insFs

Associated Papers

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.

Jovanovic M et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2023

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

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.

Webb EA et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

Cabral WA et al.

Plos 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."