Varaico: Literature-Extracted Genetic Variants

Gene:HSPA1L
Variant:p.L307L
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HSPA1L

NM_005527.4:p.L307L

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known

De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Takahashi S et al.

Genome Medicine, 2017

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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."