Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.Q2669*
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PKHD1L1

NM_177531.6:p.Q2669*

Associated Papers

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Ung C et al.

Vision Research, 2017

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

Bainbridge MN et al.

Bmc Medical Genetics, 2017

28253841 (PubMed )
Supplement: 12881_2017_385_MOESM1_ESM.pdf
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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."