Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.H1152H
Back to variants list

SALL1

NM_002968.3:p.H1152H

Associated Papers

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

Furniss D et al.

American Journal of Medical Genetics. Part A, 2007

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

Böhm J et al.

American Journal of Medical Genetics. Part A, 2006

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Kohlhase J

Human Mutation, 2000

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."