Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.P2234fs
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LAMA1

NM_005559.4:p.P2234fs

Associated Papers

Variability of retinopathy consequent upon novel mutations in LAMA1.

Schiff ER et al.

Ophthalmic Genetics, 2022

An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Wang P et al.

Frontiers in Cell and Developmental Biology, 2021

34249907 (PubMed )
Supplement: Table_3.XLSX › Sheet1

Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Elmas M et al.

Clinical Medicine Insights. Case Reports, 2020

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T et al.

Journal of Medical Genetics, 2016

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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."