Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM44

Variant:p.I204_C205Splc

Back to variants list

TMEM44

NM_001011655.3:p.I204_C205Splc

hg38:chr3:194617814 A>C

Associated Papers

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 2022

36125428 (PubMed )

Supplement: HUMU-43-2063-s002.xlsx › Pat._3_

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."