martes, 9 de octubre de 2018

Big data - OMIM - NCBI

Big data - OMIM - NCBI

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From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.


4.
KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED
Cytogenetic locations: 10q26.13
6.
9.
12.
DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED
Cytogenetic locations: 5q32
14.
CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
Cytogenetic locations: 1pter-p36.13, 8p11.23
16.
17.
18.
19.
APERT-CROUZON DISEASE, INCLUDED
Cytogenetic locations: 10q26.13
20.

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