Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.S1469A
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LAMA5

NM_005560.6:p.S1469A

Associated Papers

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

Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome.

Sunwoo Y et al.

Frontiers in Pediatrics, 2022

Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.

Taniguchi Y et al.

Kidney360, 2021

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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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."