Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.P679L
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LAMB3

NM_000228.3:p.P679L

Associated Papers

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

Mühle C et al.

Human Genetics, 2005

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

Pulkkinen L et al.

Human Mutation, 1995

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