Varaico: Literature-Extracted Genetic Variants

Gene:LCA5L
Variant:p.E316K
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LCA5L

NM_152505.4:p.E316K

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 › HLMS15_het

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Shamseldin HE et al.

Genome Biology, 2015

26036949 (PubMed )
Supplement: 13059_2015_681_MOESM2_ESM.xlsx › Sheet1
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