Varaico: Literature-Extracted Genetic Variants

Gene:PCDHB7
Variant:p.G471R
Back to variants list

PCDHB7

NM_018940.4:p.G471R

Associated Papers

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

Koprulu M et al.

The Yale Journal of Biology and Medicine, 2023

37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixB.xlsx › Sheet1

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."