Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1
Variant:p.S24R
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DZIP1

NM_198968.4:p.S24R

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

Genetic background of mitral valve prolapse.

Guicciardi NA et al.

Reviews in Cardiovascular Medicine, 2022

DZIP1 regulates mammalian cardiac valve development through a Cby1-β-catenin mechanism.

Guo L et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021

Primary cilia defects causing mitral valve prolapse.

Toomer KA et al.

Science Translational Medicine, 2019

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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."