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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMX1A

Variant:p.V239D

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LMX1A

NM_177398.4:p.V239D

hg38:chr1:165210730 A>T

Associated Papers

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Schrauwen I et al.

Human Genetics, 2018

29971487 (PubMed )

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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."