Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.L244R
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PJVK

NM_001042702.5:p.L244R

Associated Papers

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Salime S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW et al.

Human Mutation, 2007

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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."