Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.R2295C
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LAMA2

NM_000426.4:p.R2295C

Associated Papers

Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.

Liu TY et al.

Diagnostics (basel, Switzerland), 2022

35453999 (PubMed )
Supplement: diagnostics-12-00951-s001.zip › Table_S3_0707R.xlsx › Table_S3

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Li J et al.

Investigative Ophthalmology & Visual Science, 2015

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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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."