Varaico: Literature-Extracted Genetic Variants

Gene:LAMB1
Variant:p.R897Splc
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LAMB1

NM_002291.3:p.R897Splc

Associated Papers

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Toutouna L et al.

American Journal of Medical Genetics. Part A, 2023

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.

Li M et al.

The Journal of Obstetrics and Gynaecology Research, 2022

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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."