Varaico: Literature-Extracted Genetic Variants

Gene:TRIM37
Variant:p.E738delFs
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TRIM37

NM_015294.6:p.E738delFs

Associated Papers

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.

Karlberg S et al.

Clinical Genetics, 2025

Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).

Sivunen J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.

Brigant B et al.

International Journal of Molecular Sciences, 2018

Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.

Karlberg S et al.

Human Reproduction (oxford, England), 2018

New intragenic rearrangements in non-Finnish mulibrey nanism.

Jobic F et al.

American Journal of Medical Genetics. Part A, 2017

Testicular failure and male infertility in the monogenic Mulibrey nanism disorder.

Karlberg S et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

High frequency of tumours in Mulibrey nanism.

Karlberg N et al.

The Journal of Pathology, 2009

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37.

Karlberg N et al.

Diabetes, 2005

Mulibrey nanism: clinical features and diagnostic criteria.

Karlberg N et al.

Journal of Medical Genetics, 2004

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.

Kallijärvi J et al.

American Journal of Human Genetics, 2002

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Avela K et al.

Nature Genetics, 2000

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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."