Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.Q371E
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MBD5

NM_001378120.1:p.Q371E

Associated Papers

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.

Shetty M et al.

Molecular Syndromology, 2017

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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."