Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.L294R
Back to variants list

ADPRHL1

NM_001394807.1:p.L294R

Associated Papers

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Tadros R et al.

Nature Genetics, 2025

39966646 (PubMed )
Supplement: 41588_2025_2087_MOESM3_ESM.pdf

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P4-potential_comp.het.

The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway.

Tian L et al.

Stem Cell Research & Therapy, 2023

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site.

Smith SJ et al.

Plos One, 2020

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

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."