Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.A697delFs
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PDZD7

NM_001195263.2:p.A697delFs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

Liao EN et al.

Jama Network Open, 2022

36166228 (PubMed )
Supplement: jamanetwopen-e2233441-s001.pdf

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

31736247 (PubMed )
Supplement: MGG3-8-0-s001.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."