Varaico: Literature-Extracted Genetic Variants

Gene:TLL1
Variant:p.M182L
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TLL1

NM_012464.5:p.M182L

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.

Alanzi T et al.

European Journal of Human Genetics : Ejhg, 2020

Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6.

Sieron L et al.

Bioscience Reports, 2019

Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

Xu W et al.

American Journal of Medical Genetics. Part A, 2012

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

Stańczak P et al.

European Journal of Human Genetics : Ejhg, 2009

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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."