Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.Q7insFs
Back to variants list

PTHLH

NM_198965.2:p.Q7insFs

Associated Papers

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."