Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.M243V
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DEAF1

NM_021008.4:p.M243V

Associated Papers

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Ilmarinen T et al.

Human Mutation, 2005

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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."