Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.T996delFs
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LAMA1

NM_005559.4:p.T996delFs

Associated Papers

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

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA et al.

American Journal of Human Genetics, 2014

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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."