Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.V124D
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CLMP

NM_024769.5:p.V124D

Associated Papers

Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.

Chen S et al.

Clinical Genetics, 2025

The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS).

Rathjen FG et al.

International Journal of Molecular Sciences, 2023

Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS.

Ou FF et al.

Frontiers in Pediatrics, 2021

Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands.

Chuang YH et al.

Frontiers in Genetics, 2020

First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene.

Gharesouran J et al.

Journal of Pediatric Genetics, 2019

The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.

Langhorst H et al.

Disease Models & Mechanisms, 2018

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves MM et al.

European Journal of Human Genetics : Ejhg, 2016

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

van der Werf CS et al.

Biochimica Et Biophysica Acta, 2015

CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development.

van der Werf CS et al.

Plos One, 2013

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

Van Der Werf CS et al.

Gastroenterology, 2012

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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."