Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.L103L
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SMAD3

NM_005902.4:p.L103L

Associated Papers

Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients.

Yin Y et al.

Bmc Medical Genomics, 2023

37867197 (PubMed )
Supplement: 12920_2023_1686_MOESM3_ESM.xlsx › Sheet1

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Klemke L et al.

Frontiers in Oncology, 2021

34178628 (PubMed )
Supplement: DataSheet_1.pdf

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.

Luo X et al.

Frontiers in Genetics, 2020

32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Zheng M et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Medical implications of technical accuracy in genome sequencing.

Goldfeder RL et al.

Genome Medicine, 2016

26932475 (PubMed )
Supplement: 13073_2016_269_MOESM6_ESM.xlsx › Sheet1

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y et al.

Journal of Human Genetics, 2002

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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."