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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFRP

Variant:p.V394M

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MFRP

NM_031433.4:p.V394M

hg38:chr11:119342948 C>T

Associated Papers

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Lang E et al.

Acta Ophthalmologica, 2021

32996714 (PubMed )

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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."