Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.V750M
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LAMA5

NM_005560.6:p.V750M

Associated Papers

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.

Santin A et al.

Biomedicines, 2023

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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