Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.T172delFs
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LMBRD1

NM_018368.4:p.T172delFs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Braz SV et al.

Clinical and Experimental Dermatology, 2022

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.

Pinales BE et al.

Differentiation; Research in Biological Diversity, 0

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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."