Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1L1
Variant:p.M386V
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SIPA1L1

NM_001386936.1:p.M386V

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS16_het

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

SeqHBase: a big data toolset for family based sequencing data analysis.

He M et al.

Journal of Medical Genetics, 2015

25587064 (PubMed )
Supplement: jmedgenet-2014-102907-s1.pdf
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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."