New Liver Cancer Study Findings Reported from Baylor University College of Medicine (Homozygous Missense Variants In ykt6 Result In Loss of Function and Are Associated With Developmental Delay, With or Without Severe Infantile Liver...).

Předmět:	DIGESTIVE system diseases HUMAN genetics MOLECULAR genetics GENOMICS NEUROLOGICAL disorders
Zdroj:	Cancer Weekly; 9/17/2024, p640-640, 1p
Abstrakt:	A recent study conducted by Baylor University College of Medicine has found that rare homozygous missense variants in the YKT6 gene are associated with neurological disease and progressive infantile liver disease. The researchers used Drosophila models to study the variants and found that they are partial loss-of-function alleles, with one variant being more severe than the other. The study was supported by various foundations and institutes. This research provides valuable insights into the genetic factors contributing to developmental delay and liver disease. [Extracted from the article]
Databáze:	Complementary Index
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