Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.R138Q
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GPR50

NM_004224.3:p.R138Q

Associated Papers

Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.

Karakas E et al.

Dalton Transactions (cambridge, England : 2003), 2005

[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].

Boute N et al.

Nephrologie, 2002

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Boute N et al.

Nature Genetics, 2000

Sequence-specific DNA recognition of the Escherichia coli Ada protein associated with the methylation-dependent functional switch for transcriptional regulation.

Sakashita H et al.

Journal of Biochemistry, 1995

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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."