Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.V10Splc
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CLMP

NM_024769.5:p.V10Splc

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

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

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Gonnaud L et al.

Clinics and Research in Hepatology and Gastroenterology, 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."