Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.D196N
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PSAP

NM_002778.4:p.D196N

Associated Papers

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Dissection of the two transferase activities of the Pasteurella multocida hyaluronan synthase: two active sites exist in one polypeptide.

Jing W et al.

Glycobiology, 2000

Probing conserved surfaces on PapD.

Hung DL et al.

Molecular Microbiology, 1999

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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."