Variant: rs387907022 

    present in Gene: TRMU
    present in Chromosome: 22
    Position on Chromosome: 46353829
    Alleles of this Variant: G/A

rs387907022 in TRMU gene and Dysmorphic features PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

rs387907022 in TRMU gene and LIVER FAILURE, INFANTILE, TRANSIENT PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

rs387907022 in TRMU gene and Multiple congenital anomalies PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.