Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.S157*
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LAMA1

NM_005559.4:p.S157*

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

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Powell L et al.

Brain Communications, 2021

34423300 (PubMed )
Supplement: fcab163_Supplementary_Data.zip › Manuscript_original_submission.pdf
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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."