Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.G229S
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PDZD7

NM_001195263.2:p.G229S

Associated Papers

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-HZGGV2

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.

Brodie KD et al.

The Laryngoscope, 2021

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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."