Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.Y1233*
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LAMA1

NM_005559.4:p.Y1233*

Associated Papers

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

Pereira-Macedo M et al.

Cerebellum (london, England), 2024

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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."