Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.N176S
Back to variants list

PTH1R

NM_000316.3:p.N176S

Associated Papers

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Ajam-Hosseini M et al.

Bmc Medical Genomics, 2023

36829172 (PubMed )
Supplement: 12920_2023_1467_MOESM1_ESM.xls › BY1261.txt.nznd
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."