Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.N690S
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LAMB3

NM_000228.3:p.N690S

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Exome sequencing in patients with chronic central serous chorioretinopathy.

Schellevis RL et al.

Scientific Reports, 2019

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

Simpson CL et al.

Bmc Medical Genetics, 2019

30704416 (PubMed )
Supplement: 12881_2019_752_MOESM4_ESM.xlsx › Sheet1

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › coding

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Takizawa Y et al.

The Journal of Investigative Dermatology, 1998

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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."