Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.R256H
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LAMA1

NM_005559.4:p.R256H

Associated Papers

A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.

Moon WY et al.

Medicina (kaunas, Lithuania), 2025

40428839 (PubMed )
Supplement: medicina-61-00881-s001.zip › medicina-3611700-supplementary.pdf

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L14
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