Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD7

Variant:p.W72fs

Back to variants list

SAMD7

NM_001304366.2:p.W72fs

hg38:chr3:169925060 TGG>N

Associated Papers

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Bauwens M et al.

American Journal of Human Genetics, 2024

38272031 (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."