Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FRMD6

Variant:p.Y133_W134delFs

Back to variants list

FRMD6

NM_001267046.2:p.Y133_W134delFs

hg38:chr14:51704775 ACTGG>A

Associated Papers

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Miller CR et al.

Human Mutation, 2023

40225149 (PubMed )

Supplement: 6436853.f1.docx

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."