Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.N1956S
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LAMA1

NM_005559.4:p.N1956S

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants

Variant interpretation using population databases: Lessons from gnomAD.

Gudmundsson S et al.

Human Mutation, 2022

34859531 (PubMed )
Supplement: HUMU-43-1012-s001.docx

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.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."