Varaico: Literature-Extracted Genetic Variants

Gene:LAMA3
Variant:p.W16*
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LAMA3

NM_000227.6:p.W16*

Associated Papers

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.

Iacoviello M et al.

International Journal of Molecular Sciences, 2025

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R et al.

Frontiers of Medicine, 2022

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.

Ullah A et al.

Pakistan Journal of Medical Sciences, 0

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