Varaico: Literature-Extracted Genetic Variants

Gene:DAND5
Variant:p.R152H
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DAND5

NM_152654.3:p.R152H

Associated Papers

Gene-Edited Human-Induced Pluripotent Stem Cell Lines to Elucidate DAND5 Function throughout Cardiac Differentiation.

Inácio JM et al.

Cells, 2023

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.

Ganapathi M et al.

Cold Spring Harbor Molecular Case Studies, 2022

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Bolkier Y et al.

Journal of Medical Genetics, 2022

Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.

Inácio JM et al.

Stem Cell Research, 2020

Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.

Cristo F et al.

Stem Cell Research, 2017

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

Cristo F et al.

Bmc Medical Genetics, 2017

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S3T2

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1
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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."