Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A2

Variant:p.L248F

Back to variants list

SLC26A2

NM_000112.4:p.L248F

hg38:chr5:149980335 C>T

Associated Papers

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.

Yang K et al.

Biomed Research International, 2019

31218223 (PubMed )

Supplement: 2492590.f1.zip › 2492590.f1 › Supplementary_Material_2-molecular_data.doc

Some chondrodysplasias with short limbs: molecular perspectives.

Cohen MM

American Journal of Medical Genetics, 2002

12357475 (PubMed )

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."