Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V52A
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PSAP

NM_002778.4:p.V52A

Associated Papers

Novel insights from hybrid LacI/GalR proteins: family-wide functional attributes and biologically significant variation in transcription repression.

Meinhardt S et al.

Nucleic Acids Research, 2012

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.

Biffi A et al.

Clinical Genetics, 2008

MCM1 point mutants deficient in expression of alpha-specific genes: residues important for interaction with alpha 1.

Bruhn L et al.

Molecular and Cellular Biology, 1994

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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."