All individuals with variants in gene NEFH

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     

ID_report     

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VIP     

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Owner     
00081078 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother, father not available - - - - - 0 - - ALS1 Amyotrophic lateral sclerosis, susceptibility to (OMIM:105400) 1 1 Daniel Trujillano
00391943 MDCRC/0167/B-172 MDCRC 2021, submitted - M yes India - - 0 yes - DMD proximal muscle weakness (HP:0003701), Gowers sign (HP:0003391), frequent falls (HP:0002359) 1 1 Lakshmi Bremadesam
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