Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.N269K
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LMX1B

NM_001174147.2:p.N269K

Associated Papers

LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization.

Eastman B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40168115 (PubMed )
Supplement: pnas.2411716122.sapp.pdf

LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization.

Eastman B et al.

Biorxiv : the Preprint Server for Biology, 2024

39713471 (PubMed )
Supplement: media-1.docx

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.

Hou L et al.

Frontiers in Pediatrics, 2021

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Harita Y et al.

European Journal of Human Genetics : Ejhg, 2020

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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."