All individuals with variants in gene ASL

62 entries on 1 page. Showing entries 1 - 62.
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00080936 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - argininosuccinic aciduria Argininosuccinic aciduria (OMIM:207900) 1 1 Daniel Trujillano
00108488 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108489 - - - M - Morocco - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108490 - - - - - Poland - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108491 - - - M - Italy - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108492 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108493 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108494 - - - - yes - - - - - - argininosuccinic aciduria late-onset 2 1 Johan den Dunnen
00108495 - - - - - - - - - - - ? - 1 1 Johan den Dunnen
00108496 - - - F - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108497 - - - M - Germany Egyptian - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108498 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108499 - - - F - - Arabic - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108500 - - - F - - Arabic - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108501 - - - F - - Arabic - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108502 - - - F - Turkey - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108503 - - - F - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108504 - - - F - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108505 - - - M - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108506 - - - F - Bulgaria - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108507 - - - M - China - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108508 - - - M - Czech Republic - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108509 - - - M - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108510 - - - F - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108511 - - - M - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108512 - - - M - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108513 - - - M - Netherlands - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108514 - - - M - China - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108515 - - - M - Spain Gypsy - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108516 - - - - - - - - - - - ? - 1 1 Johan den Dunnen
00108517 - - - - - United States - - - - - ? - 1 1 Johan den Dunnen
00108518 - - - M - Italy - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108519 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108520 - - - - - United States - - - - - ? - 1 1 Johan den Dunnen
00108521 - - - - - United States - - - - - ? - 1 3 Johan den Dunnen
00108522 - - - M - Turkey - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108523 - - - - - United States - - - - - ? - 1 2 Johan den Dunnen
00108524 - - - - yes - - - - - - argininosuccinic aciduria neonatal-onset 2 1 Johan den Dunnen
00108525 - - - - yes - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108526 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108527 - - - - yes - - - - - - ? - 1 1 Johan den Dunnen
00108528 - - - - - Turkey - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108529 - - - F - Belgium - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108530 - - - - - - - - - - - ? - 1 1 Johan den Dunnen
00108531 - - - - - United States - - - - - ? - 1 67 Johan den Dunnen
00108532 - - - - - Turkey - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108533 - - - M - Israel Arabic - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108534 - - - - - - - - - - - ? - 1 1 Johan den Dunnen
00108535 - - - M - Lebanon - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108536 - - - M - Finland - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108537 - - - - - - - - - - - ? - 1 1 Johan den Dunnen
00108538 - - - - - United States - - - - - ? - 1 2 Johan den Dunnen
00108539 - - - - - United States - - - - - ? - 1 1 Johan den Dunnen
00108540 - - - - - United States - - - - - ? - 1 1 Johan den Dunnen
00108541 - - - M - Israel Arabic - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00108542 - - - - - - - - - - - argininosuccinic aciduria - 2 1 Johan den Dunnen
00248293 Fam11 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus affected - - - Druze - - - - argininosuccinic aciduria see paper; … 1 1 Johan den Dunnen
00248294 Fam12 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus not affected - - Kuwait - - - - - argininosuccinic aciduria see paper; … 1 1 Johan den Dunnen
00294487 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294488 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294489 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295559 - - - F - - - - - - - ? Abnormality of central motor function (HP:0011442); Progressive cerebellar ataxia (HP:0002073) 1 1 Andreas Laner
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