Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.L51P
Back to variants list

DNM1L

NM_012062.5:p.L51P

Associated Papers

Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).

Piccoli C et al.

Genes, 2021

34573276 (PubMed )
Supplement: genes-12-01295-s001.zip › genes-1298824-supplementary.pdf
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."