Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.G137delFs
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GALK1

NM_000154.2:p.G137delFs

Associated Papers

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2017

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A et al.

Molecular Vision, 2010

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M et al.

Journal of Human Genetics, 1999

[Galactokinase deficiency].

Okano Y et al.

Ryoikibetsu Shokogun Shirizu, 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."