Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.L667W
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MBD5

NM_001378120.1:p.L667W

Associated Papers

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.

Rochtus AM et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."