Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.A17S
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MASP1

NM_139125.4:p.A17S

Associated Papers

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Graul-Neumann LM et al.

European Journal of Medical Genetics, 2018

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.

Kari E et al.

Neurology. Genetics, 2017

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.

Kari E et al.

Ear and Hearing, 0

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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."