Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAD1

Variant:p.Q230_V231Splc

Back to variants list

ATAD1

NM_001321967.2:p.Q230_V231Splc

hg38:chr10:87776320 C>G

Associated Papers

Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1.

Craddock KE et al.

Pediatric Neurology, 2023

36933275 (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."