Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT3
Variant:p.L198L
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B4GALT3

NM_003779.4:p.L198L

Associated Papers

Del(1)(q23) in a patient with Hutchinson-Gilford progeria.

Delgado Luengo W et al.

American Journal of Medical Genetics, 2002

[Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families].

Delgado-Luengo WN et al.

Investigacion Clinica, 2002

[Analysis of Bcl I polymorphism of factor VIII gene in the molecular diagnosis of female hemophilia A carriers in families from northwestern Venezuela].

Borjas-Fajardo L et al.

Sangre, 1999

[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].

Martínez-Basalo C et al.

Investigacion Clinica, 1997

[Prenatal molecular diagnosis of cystic fibrosis. Report of 3 cases].

Morales-Machín A et al.

Investigacion Clinica, 1997

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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."