Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.N34S
Back to variants list

SBDS

NM_016038.4:p.N34S

Associated Papers

A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.

Newman AR et al.

Journal of Pediatric Hematology/oncology, 2009

Shwachman-Diamond syndrome presenting as hypoglycemia.

Albrecht LA et al.

Clinical Pediatrics, 2009

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."