Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.N197delFs
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CLMP

NM_024769.5:p.N197delFs

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

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

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

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."