Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.A166T
Back to variants list

PITX3

NM_005029.4:p.A166T

Associated Papers

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.

Lipiński P et al.

Orphanet Journal of Rare Diseases, 2019

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."