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Q30855176-7E1EFF49-11E0-4BA2-A5E4-07C7551B0A34
Q30855176-7E1EFF49-11E0-4BA2-A5E4-07C7551B0A34
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http://www.wikidata.org/entity/statement/Q30855176-7E1EFF49-11E0-4BA2-A5E4-07C7551B0A34
Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
P2860
Q30855176-7E1EFF49-11E0-4BA2-A5E4-07C7551B0A34
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http://www.wikidata.org/entity/statement/Q30855176-7E1EFF49-11E0-4BA2-A5E4-07C7551B0A34
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cdf8ef3bcbc1b75337e42581407ead01b4c14015
P2860
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.