Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.K188_V189Splc
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LAMB3

NM_000228.3:p.K188_V189Splc

Associated Papers

Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.

Wen D et al.

The Journal of Investigative Dermatology, 2024

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

Pfendner EG et al.

Prenatal Diagnosis, 2003

Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.

Krous HF et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."