Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.H1717Y
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LAMA5

NM_005560.6:p.H1717Y

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Deltas C et al.

Genes, 2023

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.

Pacheco Y et al.

Cells, 2021

34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1

Non-collagen genes role in digenic Alport syndrome.

Daga S et al.

Bmc Nephrology, 2019

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