Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.K507ins1
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ADPRHL1

NM_001394807.1:p.K507ins1

Associated Papers

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.

Jaouadi H et al.

Clinical Case Reports, 2022

35341025 (PubMed )
Supplement: CCR3-10-e05339-s001.xlsx › Feuil1

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
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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."