Varaico: Literature-Extracted Genetic Variants

Gene:GALNTL5
Variant:p.V52fs
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GALNTL5

NM_145292.4:p.V52fs

Associated Papers

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O et al.

Genes, 2021

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Papuc SM et al.

European Journal of Human Genetics : Ejhg, 2019

30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx
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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."