Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.A261_M262Splc
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OSTM1

NM_014028.4:p.A261_M262Splc

Associated Papers

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

Nadyrshina DD et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Genetics of Osteopetrosis.

Palagano E et al.

Current Osteoporosis Reports, 2018

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Herebian D et al.

European Journal of Human Genetics : Ejhg, 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."