Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.E77delFs
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CLMP

NM_024769.5:p.E77delFs

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

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."