All individuals with variants in gene CLCN7

2 entries on 1 page. Showing entries 1 - 2.
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VIP     

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00240147 patient 1 PubMed: Fichtman 2019 - F - United States white - 0 - - ? see paper; ..., albinism, delayed myelination, delayed development, organomegaly, hypopigmentation, no osteopetrosis 1 1 Johan den Dunnen
00240148 patient 2 PubMed: Fichtman 2019 - M - Ghana - - 0 - - ? see paper; ..., skin and hair hypopigmentation, normally pigmented irides, delayed myelination, delayed development, organomegaly, hypopigmentation, no osteopetrosis 1 1 Johan den Dunnen
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