Varaico: Literature-Extracted Genetic Variants

Gene:NTMT2
Variant:p.R129S
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NTMT2

NM_001136107.2:p.R129S

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report.

Khurana S et al.

Annals of Indian Academy of Neurology, 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."