Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.R274Q
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CLMP

NM_024769.5:p.R274Q

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

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

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."