Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.P1157R
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HR

NM_005144.5:p.P1157R

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

Disease causing homozygous variants in the human hairless gene.

Mehmood S et al.

International Journal of Dermatology, 2016

Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review.

Wang S et al.

Dermatology (basel, Switzerland), 2013

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.

Azeem Z et al.

The Journal of Dermatology, 2011

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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."