Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.R2295H
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LAMA2

NM_000426.4:p.R2295H

Associated Papers

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Li S et al.

Orphanet Journal of Rare Diseases, 2024

38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › dominant_inheritance

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Li J et al.

Investigative Ophthalmology & Visual Science, 2015

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