Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.M209L
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VCL

NM_014000.3:p.M209L

Associated Papers

Establishment of a human iPSC (ZZUNEUi026-A) from a dilated cardiomyopathy patient carrying heterozygous Vinculin (c. 625A > T) mutant.

Liu Y et al.

Stem Cell Research, 2022

Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.

Giri P et al.

Heart Failure Reviews, 2022

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

35966080 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects.

Wang Y et al.

Molecular Genetics & Genomic Medicine, 2021

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.

Karim A et al.

Frontiers in Pediatrics, 2021

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.

Lai FP et al.

Gastroenterology, 2017

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.

Zhao Y et al.

International Journal of Molecular Medicine, 2015

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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."