Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R110H
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NPR2

NM_003995.4:p.R110H

Associated Papers

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.

Kahraman AB et al.

American Journal of Medical Genetics. Part A, 2022

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Simsek-Kiper PO et al.

Journal of Human Genetics, 2021

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