Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.G142Splc
Back to variants list

GCSH

NM_004483.5:p.G142Splc

Associated Papers

Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.

Su JY et al.

Elife, 2025

39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Majethia P et al.

Clinical Genetics, 2021

Mutations of the glycine cleavage system genes possibly affect the negative symptoms of schizophrenia through metabolomic profile changes.

Yoshikawa A et al.

Psychiatry and Clinical Neurosciences, 2018

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Kure S et al.

Annals of Neurology, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."